SNP Links for Protein (Select 530370321) - SNP

Select item 14900153201.

rs1490015320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218362780 (GRCh38)
2:219227503 (GRCh37)
Canonical SPDI:: NC_000002.12:218362779:G:A
Gene:: CATIP (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.218362780G>A, NC_000002.11:g.219227503G>A, XM_005246539.5:c.415G>A, XM_005246539.4:c.415G>A, XM_005246539.3:c.415G>A, XM_005246539.2:c.415G>A, XM_005246539.1:c.415G>A, XM_005246541.5:c.214G>A, XM_005246541.4:c.214G>A, XM_005246541.3:c.214G>A, XM_005246541.2:c.214G>A, XM_005246541.1:c.214G>A, XM_011511149.3:c.163G>A, XM_011511149.2:c.163G>A, XM_011511149.1:c.163G>A, XM_011511150.3:c.163G>A, XM_011511150.2:c.163G>A, XM_011511150.1:c.163G>A, NM_001320865.2:c.541G>A, NM_001320865.1:c.541G>A, NM_198559.2:c.508G>A, NM_198559.1:c.508G>A, XP_005246596.1:p.Gly139Ser, XP_005246598.1:p.Gly72Ser, XP_011509451.1:p.Gly55Ser, XP_011509452.1:p.Gly55Ser, NP_001307794.1:p.Gly181Ser, NP_940961.1:p.Gly170Ser

Select item 14893007902.

rs1489300790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:218364741 (GRCh38)
2:219229464 (GRCh37)
Canonical SPDI:: NC_000002.12:218364740:G:T
Gene:: CATIP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218364741G>T, NC_000002.11:g.219229464G>T, XM_005246539.5:c.651G>T, XM_005246539.4:c.651G>T, XM_005246539.3:c.651G>T, XM_005246539.2:c.651G>T, XM_005246539.1:c.651G>T, XM_005246541.5:c.450G>T, XM_005246541.4:c.450G>T, XM_005246541.3:c.450G>T, XM_005246541.2:c.450G>T, XM_005246541.1:c.450G>T, XM_011511148.3:c.609G>T, XM_011511148.2:c.609G>T, XM_011511148.1:c.609G>T, XM_011511149.3:c.399G>T, XM_011511149.2:c.399G>T, XM_011511149.1:c.399G>T, XM_011511150.3:c.399G>T, XM_011511150.2:c.399G>T, XM_011511150.1:c.399G>T, NM_001320865.2:c.777G>T, NM_001320865.1:c.777G>T, NM_198559.2:c.744G>T, NM_198559.1:c.744G>T

Select item 14833656083.

rs1483365608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218364728 (GRCh38)
2:219229451 (GRCh37)
Canonical SPDI:: NC_000002.12:218364727:G:A
Gene:: CATIP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.218364728G>A, NC_000002.11:g.219229451G>A, XM_005246539.5:c.638G>A, XM_005246539.4:c.638G>A, XM_005246539.3:c.638G>A, XM_005246539.2:c.638G>A, XM_005246539.1:c.638G>A, XM_005246541.5:c.437G>A, XM_005246541.4:c.437G>A, XM_005246541.3:c.437G>A, XM_005246541.2:c.437G>A, XM_005246541.1:c.437G>A, XM_011511148.3:c.596G>A, XM_011511148.2:c.596G>A, XM_011511148.1:c.596G>A, XM_011511149.3:c.386G>A, XM_011511149.2:c.386G>A, XM_011511149.1:c.386G>A, XM_011511150.3:c.386G>A, XM_011511150.2:c.386G>A, XM_011511150.1:c.386G>A, NM_001320865.2:c.764G>A, NM_001320865.1:c.764G>A, NM_198559.2:c.731G>A, NM_198559.1:c.731G>A, XP_005246596.1:p.Cys213Tyr, XP_005246598.1:p.Cys146Tyr, XP_011509450.1:p.Cys199Tyr, XP_011509451.1:p.Cys129Tyr, XP_011509452.1:p.Cys129Tyr, NP_001307794.1:p.Cys255Tyr, NP_940961.1:p.Cys244Tyr

Select item 14833495334.

rs1483349533 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 2:218364677 (GRCh38)
2:219229400 (GRCh37)
Canonical SPDI:: NC_000002.12:218364676:T:
Gene:: CATIP (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218364677del, NC_000002.11:g.219229400del, XM_005246539.5:c.587del, XM_005246539.4:c.587del, XM_005246539.3:c.587del, XM_005246539.2:c.587del, XM_005246539.1:c.587del, XM_005246541.5:c.386del, XM_005246541.4:c.386del, XM_005246541.3:c.386del, XM_005246541.2:c.386del, XM_005246541.1:c.386del, XM_011511148.3:c.545del, XM_011511148.2:c.545del, XM_011511148.1:c.545del, XM_011511149.3:c.335del, XM_011511149.2:c.335del, XM_011511149.1:c.335del, XM_011511150.3:c.335del, XM_011511150.2:c.335del, XM_011511150.1:c.335del, NM_001320865.2:c.713del, NM_001320865.1:c.713del, NM_198559.2:c.680del, NM_198559.1:c.680del, XP_005246596.1:p.Val196fs, XP_005246598.1:p.Val129fs, XP_011509450.1:p.Val182fs, XP_011509451.1:p.Val112fs, XP_011509452.1:p.Val112fs, NP_001307794.1:p.Val238fs, NP_940961.1:p.Val227fs

Select item 14798363735.

rs1479836373 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:218357657 (GRCh38)
2:219222380 (GRCh37)
Canonical SPDI:: NC_000002.12:218357656:T:C,NC_000002.12:218357656:T:G
Gene:: CATIP (Varview), CATIP-AS2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.218357657T>C, NC_000002.12:g.218357657T>G, NC_000002.11:g.219222380T>C, NC_000002.11:g.219222380T>G, XM_005246539.5:c.149T>C, XM_005246539.5:c.149T>G, XM_005246539.4:c.149T>C, XM_005246539.4:c.149T>G, XM_005246539.3:c.149T>C, XM_005246539.3:c.149T>G, XM_005246539.2:c.149T>C, XM_005246539.2:c.149T>G, XM_005246539.1:c.149T>C, XM_005246539.1:c.149T>G, XM_011511148.3:c.275T>C, XM_011511148.3:c.275T>G, XM_011511148.2:c.275T>C, XM_011511148.2:c.275T>G, XM_011511148.1:c.275T>C, XM_011511148.1:c.275T>G, XM_011511149.3:c.-155T>C, XM_011511149.3:c.-155T>G, XM_011511149.2:c.-155T>C, XM_011511149.2:c.-155T>G, XM_011511149.1:c.-155T>C, XM_011511149.1:c.-155T>G, NM_001320865.2:c.275T>C, NM_001320865.2:c.275T>G, NM_001320865.1:c.275T>C, NM_001320865.1:c.275T>G, NM_198559.2:c.242T>C, NM_198559.2:c.242T>G, NM_198559.1:c.242T>C, NM_198559.1:c.242T>G, XP_005246596.1:p.Met50Thr, XP_005246596.1:p.Met50Arg, XP_011509450.1:p.Met92Thr, XP_011509450.1:p.Met92Arg, NP_001307794.1:p.Met92Thr, NP_001307794.1:p.Met92Arg, NP_940961.1:p.Met81Thr, NP_940961.1:p.Met81Arg

Select item 14757461286.

rs1475746128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218362842 (GRCh38)
2:219227565 (GRCh37)
Canonical SPDI:: NC_000002.12:218362841:G:A
Gene:: CATIP (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.218362842G>A, NC_000002.11:g.219227565G>A, XM_005246539.5:c.477G>A, XM_005246539.4:c.477G>A, XM_005246539.3:c.477G>A, XM_005246539.2:c.477G>A, XM_005246539.1:c.477G>A, XM_005246541.5:c.276G>A, XM_005246541.4:c.276G>A, XM_005246541.3:c.276G>A, XM_005246541.2:c.276G>A, XM_005246541.1:c.276G>A, XM_011511149.3:c.225G>A, XM_011511149.2:c.225G>A, XM_011511149.1:c.225G>A, XM_011511150.3:c.225G>A, XM_011511150.2:c.225G>A, XM_011511150.1:c.225G>A, NM_001320865.2:c.603G>A, NM_001320865.1:c.603G>A, NM_198559.2:c.570G>A, NM_198559.1:c.570G>A

Select item 14728084387.

rs1472808438 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218360590 (GRCh38)
2:219225313 (GRCh37)
Canonical SPDI:: NC_000002.12:218360589:G:A
Gene:: CATIP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.218360590G>A, NC_000002.11:g.219225313G>A, XM_005246539.5:c.300G>A, XM_005246539.4:c.300G>A, XM_005246539.3:c.300G>A, XM_005246539.2:c.300G>A, XM_005246539.1:c.300G>A, XM_005246541.5:c.99G>A, XM_005246541.4:c.99G>A, XM_005246541.3:c.99G>A, XM_005246541.2:c.99G>A, XM_005246541.1:c.99G>A, XM_011511148.3:c.426G>A, XM_011511148.2:c.426G>A, XM_011511148.1:c.426G>A, XM_011511149.3:c.48G>A, XM_011511149.2:c.48G>A, XM_011511149.1:c.48G>A, XM_011511150.3:c.48G>A, XM_011511150.2:c.48G>A, XM_011511150.1:c.48G>A, NM_001320865.2:c.426G>A, NM_001320865.1:c.426G>A, NM_198559.2:c.393G>A, NM_198559.1:c.393G>A, XP_005246596.1:p.Met100Ile, XP_005246598.1:p.Met33Ile, XP_011509450.1:p.Met142Ile, XP_011509451.1:p.Met16Ile, XP_011509452.1:p.Met16Ile, NP_001307794.1:p.Met142Ile, NP_940961.1:p.Met131Ile

Select item 14719880198.

rs1471988019 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:218357578 (GRCh38)
2:219222301 (GRCh37)
Canonical SPDI:: NC_000002.12:218357577:A:G
Gene:: CATIP (Varview), CATIP-AS2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.218357578A>G, NC_000002.11:g.219222301A>G, XM_005246539.5:c.70A>G, XM_005246539.4:c.70A>G, XM_005246539.3:c.70A>G, XM_005246539.2:c.70A>G, XM_005246539.1:c.70A>G, XM_011511148.3:c.196A>G, XM_011511148.2:c.196A>G, XM_011511148.1:c.196A>G, NM_001320865.2:c.196A>G, NM_001320865.1:c.196A>G, NM_198559.2:c.163A>G, NM_198559.1:c.163A>G, XP_005246596.1:p.Met24Val, XP_011509450.1:p.Met66Val, NP_001307794.1:p.Met66Val, NP_940961.1:p.Met55Val

Select item 14712863969.

rs1471286396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218367955 (GRCh38)
2:219232678 (GRCh37)
Canonical SPDI:: NC_000002.12:218367954:G:A
Gene:: CATIP (Varview), CATIP-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
HGVS:: NC_000002.12:g.218367955G>A, NC_000002.11:g.219232678G>A, XM_005246539.5:c.1062G>A, XM_005246539.4:c.1062G>A, XM_005246539.3:c.1062G>A, XM_005246539.2:c.1062G>A, XM_005246539.1:c.1062G>A, XM_005246541.5:c.861G>A, XM_005246541.4:c.861G>A, XM_005246541.3:c.861G>A, XM_005246541.2:c.861G>A, XM_005246541.1:c.861G>A, XM_011511148.3:c.1020G>A, XM_011511148.2:c.1020G>A, XM_011511148.1:c.1020G>A, XM_011511149.3:c.810G>A, XM_011511149.2:c.810G>A, XM_011511149.1:c.810G>A, XM_011511150.3:c.810G>A, XM_011511150.2:c.810G>A, XM_011511150.1:c.810G>A, NM_001320865.2:c.1188G>A, NM_001320865.1:c.1188G>A, NM_198559.2:c.1155G>A, NM_198559.1:c.1155G>A

Select item 147095173910.

rs1470951739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218362817 (GRCh38)
2:219227540 (GRCh37)
Canonical SPDI:: NC_000002.12:218362816:G:A
Gene:: CATIP (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.218362817G>A, NC_000002.11:g.219227540G>A, XM_005246539.5:c.452G>A, XM_005246539.4:c.452G>A, XM_005246539.3:c.452G>A, XM_005246539.2:c.452G>A, XM_005246539.1:c.452G>A, XM_005246541.5:c.251G>A, XM_005246541.4:c.251G>A, XM_005246541.3:c.251G>A, XM_005246541.2:c.251G>A, XM_005246541.1:c.251G>A, XM_011511149.3:c.200G>A, XM_011511149.2:c.200G>A, XM_011511149.1:c.200G>A, XM_011511150.3:c.200G>A, XM_011511150.2:c.200G>A, XM_011511150.1:c.200G>A, NM_001320865.2:c.578G>A, NM_001320865.1:c.578G>A, NM_198559.2:c.545G>A, NM_198559.1:c.545G>A, XP_005246596.1:p.Arg151Lys, XP_005246598.1:p.Arg84Lys, XP_011509451.1:p.Arg67Lys, XP_011509452.1:p.Arg67Lys, NP_001307794.1:p.Arg193Lys, NP_940961.1:p.Arg182Lys

Select item 146955086311.

rs1469550863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218367820 (GRCh38)
2:219232543 (GRCh37)
Canonical SPDI:: NC_000002.12:218367819:G:A
Gene:: CATIP (Varview), CATIP-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218367820G>A, NC_000002.11:g.219232543G>A, XM_005246539.5:c.927G>A, XM_005246539.4:c.927G>A, XM_005246539.3:c.927G>A, XM_005246539.2:c.927G>A, XM_005246539.1:c.927G>A, XM_005246541.5:c.726G>A, XM_005246541.4:c.726G>A, XM_005246541.3:c.726G>A, XM_005246541.2:c.726G>A, XM_005246541.1:c.726G>A, XM_011511148.3:c.885G>A, XM_011511148.2:c.885G>A, XM_011511148.1:c.885G>A, XM_011511149.3:c.675G>A, XM_011511149.2:c.675G>A, XM_011511149.1:c.675G>A, XM_011511150.3:c.675G>A, XM_011511150.2:c.675G>A, XM_011511150.1:c.675G>A, NM_001320865.2:c.1053G>A, NM_001320865.1:c.1053G>A, NM_198559.2:c.1020G>A, NM_198559.1:c.1020G>A, NR_110573.1:n.83C>T

Select item 146705956012.

rs1467059560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:218357631 (GRCh38)
2:219222354 (GRCh37)
Canonical SPDI:: NC_000002.12:218357630:A:G,NC_000002.12:218357630:A:T
Gene:: CATIP (Varview), CATIP-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218357631A>G, NC_000002.12:g.218357631A>T, NC_000002.11:g.219222354A>G, NC_000002.11:g.219222354A>T, XM_005246539.5:c.123A>G, XM_005246539.5:c.123A>T, XM_005246539.4:c.123A>G, XM_005246539.4:c.123A>T, XM_005246539.3:c.123A>G, XM_005246539.3:c.123A>T, XM_005246539.2:c.123A>G, XM_005246539.2:c.123A>T, XM_005246539.1:c.123A>G, XM_005246539.1:c.123A>T, XM_011511148.3:c.249A>G, XM_011511148.3:c.249A>T, XM_011511148.2:c.249A>G, XM_011511148.2:c.249A>T, XM_011511148.1:c.249A>G, XM_011511148.1:c.249A>T, NM_001320865.2:c.249A>G, NM_001320865.2:c.249A>T, NM_001320865.1:c.249A>G, NM_001320865.1:c.249A>T, NM_198559.2:c.216A>G, NM_198559.2:c.216A>T, NM_198559.1:c.216A>G, NM_198559.1:c.216A>T, XP_005246596.1:p.Arg41Ser, XP_011509450.1:p.Arg83Ser, NP_001307794.1:p.Arg83Ser, NP_940961.1:p.Arg72Ser

Select item 146668782013.

rs1466687820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:218367786 (GRCh38)
2:219232509 (GRCh37)
Canonical SPDI:: NC_000002.12:218367785:C:G
Gene:: CATIP (Varview), CATIP-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.218367786C>G, NC_000002.11:g.219232509C>G, XM_005246539.5:c.893C>G, XM_005246539.4:c.893C>G, XM_005246539.3:c.893C>G, XM_005246539.2:c.893C>G, XM_005246539.1:c.893C>G, XM_005246541.5:c.692C>G, XM_005246541.4:c.692C>G, XM_005246541.3:c.692C>G, XM_005246541.2:c.692C>G, XM_005246541.1:c.692C>G, XM_011511148.3:c.851C>G, XM_011511148.2:c.851C>G, XM_011511148.1:c.851C>G, XM_011511149.3:c.641C>G, XM_011511149.2:c.641C>G, XM_011511149.1:c.641C>G, XM_011511150.3:c.641C>G, XM_011511150.2:c.641C>G, XM_011511150.1:c.641C>G, NM_001320865.2:c.1019C>G, NM_001320865.1:c.1019C>G, NM_198559.2:c.986C>G, NM_198559.1:c.986C>G, NR_110573.1:n.117G>C, XP_005246596.1:p.Ser298Cys, XP_005246598.1:p.Ser231Cys, XP_011509450.1:p.Ser284Cys, XP_011509451.1:p.Ser214Cys, XP_011509452.1:p.Ser214Cys, NP_001307794.1:p.Ser340Cys, NP_940961.1:p.Ser329Cys

Select item 146553868214.

rs1465538682 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218362868 (GRCh38)
2:219227591 (GRCh37)
Canonical SPDI:: NC_000002.12:218362867:T:C
Gene:: CATIP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218362868T>C, NC_000002.11:g.219227591T>C, XM_005246539.5:c.503T>C, XM_005246539.4:c.503T>C, XM_005246539.3:c.503T>C, XM_005246539.2:c.503T>C, XM_005246539.1:c.503T>C, XM_005246541.5:c.302T>C, XM_005246541.4:c.302T>C, XM_005246541.3:c.302T>C, XM_005246541.2:c.302T>C, XM_005246541.1:c.302T>C, XM_011511149.3:c.251T>C, XM_011511149.2:c.251T>C, XM_011511149.1:c.251T>C, XM_011511150.3:c.251T>C, XM_011511150.2:c.251T>C, XM_011511150.1:c.251T>C, NM_001320865.2:c.629T>C, NM_001320865.1:c.629T>C, NM_198559.2:c.596T>C, NM_198559.1:c.596T>C, XP_005246596.1:p.Leu168Ser, XP_005246598.1:p.Leu101Ser, XP_011509451.1:p.Leu84Ser, XP_011509452.1:p.Leu84Ser, NP_001307794.1:p.Leu210Ser, NP_940961.1:p.Leu199Ser

Select item 146381990815.

rs1463819908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:218362843 (GRCh38)
2:219227566 (GRCh37)
Canonical SPDI:: NC_000002.12:218362842:C:A
Gene:: CATIP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218362843C>A, NC_000002.11:g.219227566C>A, XM_005246539.5:c.478C>A, XM_005246539.4:c.478C>A, XM_005246539.3:c.478C>A, XM_005246539.2:c.478C>A, XM_005246539.1:c.478C>A, XM_005246541.5:c.277C>A, XM_005246541.4:c.277C>A, XM_005246541.3:c.277C>A, XM_005246541.2:c.277C>A, XM_005246541.1:c.277C>A, XM_011511149.3:c.226C>A, XM_011511149.2:c.226C>A, XM_011511149.1:c.226C>A, XM_011511150.3:c.226C>A, XM_011511150.2:c.226C>A, XM_011511150.1:c.226C>A, NM_001320865.2:c.604C>A, NM_001320865.1:c.604C>A, NM_198559.2:c.571C>A, NM_198559.1:c.571C>A, XP_005246596.1:p.Pro160Thr, XP_005246598.1:p.Pro93Thr, XP_011509451.1:p.Pro76Thr, XP_011509452.1:p.Pro76Thr, NP_001307794.1:p.Pro202Thr, NP_940961.1:p.Pro191Thr

Select item 145843871616.

rs1458438716 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:218360600 (GRCh38)
2:219225323 (GRCh37)
Canonical SPDI:: NC_000002.12:218360599:A:T
Gene:: CATIP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218360600A>T, NC_000002.11:g.219225323A>T, XM_005246539.5:c.310A>T, XM_005246539.4:c.310A>T, XM_005246539.3:c.310A>T, XM_005246539.2:c.310A>T, XM_005246539.1:c.310A>T, XM_005246541.5:c.109A>T, XM_005246541.4:c.109A>T, XM_005246541.3:c.109A>T, XM_005246541.2:c.109A>T, XM_005246541.1:c.109A>T, XM_011511148.3:c.436A>T, XM_011511148.2:c.436A>T, XM_011511148.1:c.436A>T, XM_011511149.3:c.58A>T, XM_011511149.2:c.58A>T, XM_011511149.1:c.58A>T, XM_011511150.3:c.58A>T, XM_011511150.2:c.58A>T, XM_011511150.1:c.58A>T, NM_001320865.2:c.436A>T, NM_001320865.1:c.436A>T, NM_198559.2:c.403A>T, NM_198559.1:c.403A>T, XP_005246596.1:p.Met104Leu, XP_005246598.1:p.Met37Leu, XP_011509450.1:p.Met146Leu, XP_011509451.1:p.Met20Leu, XP_011509452.1:p.Met20Leu, NP_001307794.1:p.Met146Leu, NP_940961.1:p.Met135Leu

Select item 145776895917.

rs1457768959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218367764 (GRCh38)
2:219232487 (GRCh37)
Canonical SPDI:: NC_000002.12:218367763:C:T
Gene:: CATIP (Varview), CATIP-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218367764C>T, NC_000002.11:g.219232487C>T, XM_005246539.5:c.871C>T, XM_005246539.4:c.871C>T, XM_005246539.3:c.871C>T, XM_005246539.2:c.871C>T, XM_005246539.1:c.871C>T, XM_005246541.5:c.670C>T, XM_005246541.4:c.670C>T, XM_005246541.3:c.670C>T, XM_005246541.2:c.670C>T, XM_005246541.1:c.670C>T, XM_011511148.3:c.829C>T, XM_011511148.2:c.829C>T, XM_011511148.1:c.829C>T, XM_011511149.3:c.619C>T, XM_011511149.2:c.619C>T, XM_011511149.1:c.619C>T, XM_011511150.3:c.619C>T, XM_011511150.2:c.619C>T, XM_011511150.1:c.619C>T, NM_001320865.2:c.997C>T, NM_001320865.1:c.997C>T, NM_198559.2:c.964C>T, NM_198559.1:c.964C>T, NR_110573.1:n.139G>A, XP_005246596.1:p.Pro291Ser, XP_005246598.1:p.Pro224Ser, XP_011509450.1:p.Pro277Ser, XP_011509451.1:p.Pro207Ser, XP_011509452.1:p.Pro207Ser, NP_001307794.1:p.Pro333Ser, NP_940961.1:p.Pro322Ser

Select item 145638975218.

rs1456389752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:218367513 (GRCh38)
2:219232236 (GRCh37)
Canonical SPDI:: NC_000002.12:218367512:C:A
Gene:: CATIP (Varview), CATIP-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218367513C>A, NC_000002.11:g.219232236C>A, XM_005246539.5:c.823C>A, XM_005246539.4:c.823C>A, XM_005246539.3:c.823C>A, XM_005246539.2:c.823C>A, XM_005246539.1:c.823C>A, XM_005246541.5:c.622C>A, XM_005246541.4:c.622C>A, XM_005246541.3:c.622C>A, XM_005246541.2:c.622C>A, XM_005246541.1:c.622C>A, XM_011511148.3:c.781C>A, XM_011511148.2:c.781C>A, XM_011511148.1:c.781C>A, XM_011511149.3:c.571C>A, XM_011511149.2:c.571C>A, XM_011511149.1:c.571C>A, XM_011511150.3:c.571C>A, XM_011511150.2:c.571C>A, XM_011511150.1:c.571C>A, NM_001320865.2:c.949C>A, NM_001320865.1:c.949C>A, NM_198559.2:c.916C>A, NM_198559.1:c.916C>A

Select item 145634839119.

rs1456348391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218362830 (GRCh38)
2:219227553 (GRCh37)
Canonical SPDI:: NC_000002.12:218362829:G:A
Gene:: CATIP (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218362830G>A, NC_000002.11:g.219227553G>A, XM_005246539.5:c.465G>A, XM_005246539.4:c.465G>A, XM_005246539.3:c.465G>A, XM_005246539.2:c.465G>A, XM_005246539.1:c.465G>A, XM_005246541.5:c.264G>A, XM_005246541.4:c.264G>A, XM_005246541.3:c.264G>A, XM_005246541.2:c.264G>A, XM_005246541.1:c.264G>A, XM_011511149.3:c.213G>A, XM_011511149.2:c.213G>A, XM_011511149.1:c.213G>A, XM_011511150.3:c.213G>A, XM_011511150.2:c.213G>A, XM_011511150.1:c.213G>A, NM_001320865.2:c.591G>A, NM_001320865.1:c.591G>A, NM_198559.2:c.558G>A, NM_198559.1:c.558G>A, XP_005246596.1:p.Trp155Ter, XP_005246598.1:p.Trp88Ter, XP_011509451.1:p.Trp71Ter, XP_011509452.1:p.Trp71Ter, NP_001307794.1:p.Trp197Ter, NP_940961.1:p.Trp186Ter

Select item 145293753220.

rs1452937532 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:218362887 (GRCh38)
2:219227610 (GRCh37)
Canonical SPDI:: NC_000002.12:218362884:CTCT:CT
Gene:: CATIP (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218362885CT[1], NC_000002.11:g.219227608CT[1], XM_005246539.5:c.522_523del, XM_005246539.4:c.522_523del, XM_005246539.3:c.522_523del, XM_005246539.2:c.522_523del, XM_005246539.1:c.522_523del, XM_005246541.5:c.321_322del, XM_005246541.4:c.321_322del, XM_005246541.3:c.321_322del, XM_005246541.2:c.321_322del, XM_005246541.1:c.321_322del, XM_011511149.3:c.270_271del, XM_011511149.2:c.270_271del, XM_011511149.1:c.270_271del, XM_011511150.3:c.270_271del, XM_011511150.2:c.270_271del, XM_011511150.1:c.270_271del, NM_001320865.2:c.648_649del, NM_001320865.1:c.648_649del, NM_198559.2:c.615_616del, NM_198559.1:c.615_616del, XP_005246596.1:p.Cys175fs, XP_005246598.1:p.Cys108fs, XP_011509451.1:p.Cys91fs, XP_011509452.1:p.Cys91fs, NP_001307794.1:p.Cys217fs, NP_940961.1:p.Cys206fs

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dbSNP

Result Filters

Validation Status

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Global MAF

Custom range

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Items: 1 to 20 of 390

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