SNP Links for Nucleotide (Select 443497965) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:68551257 (GRCh38)
17:66547398 (GRCh37)
Canonical SPDI:: NC_000017.11:68551256:A:G
Gene:: PRKAR1A (Varview), FAM20A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000017.11:g.68551257A>G, NC_000017.10:g.66547398A>G, NG_007093.3:g.142635A>G, NM_001276290.1:c.*133A>G, NG_029809.1:g.54698T>C

Select item 14678865449.

rs1467886544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:68515427 (GRCh38)
17:66511568 (GRCh37)
Canonical SPDI:: NC_000017.11:68515426:G:A
Gene:: PRKAR1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.68515427G>A, NC_000017.10:g.66511568G>A, NG_007093.3:g.106805G>A, NM_002734.5:c.28G>A, NM_002734.4:c.28G>A, NM_212471.3:c.28G>A, NM_212471.2:c.28G>A, NM_001276289.2:c.28G>A, NM_001276289.1:c.28G>A, NM_212472.2:c.28G>A, NM_001278433.2:c.28G>A, NM_001278433.1:c.28G>A, NM_001369389.1:c.28G>A, NM_001369390.1:c.28G>A, NM_001276290.1:c.28G>A, XM_011524984.4:c.28G>A, XM_011524984.3:c.28G>A, XM_011524984.2:c.28G>A, XM_011524984.1:c.28G>A, XM_047436369.1:c.28G>A, XM_047436370.1:c.28G>A, NP_002725.1:p.Glu10Lys, NP_997636.1:p.Glu10Lys, NP_001263218.1:p.Glu10Lys, NP_997637.1:p.Glu10Lys, NP_001265362.1:p.Glu10Lys, NP_001356318.1:p.Glu10Lys, NP_001356319.1:p.Glu10Lys, NP_001263219.1:p.Glu10Lys, XP_011523286.1:p.Glu10Lys, XP_047292325.1:p.Glu10Lys, XP_047292326.1:p.Glu10Lys

Select item 146359346810.

rs1463593468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:68524073 (GRCh38)
17:66520214 (GRCh37)
Canonical SPDI:: NC_000017.11:68524072:G:A
Gene:: PRKAR1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.68524073G>A, NC_000017.10:g.66520214G>A, NG_007093.3:g.115451G>A, NM_002734.5:c.498G>A, NM_002734.4:c.498G>A, NM_212471.3:c.498G>A, NM_212471.2:c.498G>A, NM_001276289.2:c.498G>A, NM_001276289.1:c.498G>A, NM_212472.2:c.498G>A, NM_001278433.2:c.498G>A, NM_001278433.1:c.498G>A, NM_001369389.1:c.498G>A, NM_001369390.1:c.498G>A, NM_001276290.1:c.498G>A, XM_011524984.4:c.498G>A, XM_011524984.3:c.498G>A, XM_011524984.2:c.498G>A, XM_011524984.1:c.498G>A, XM_047436369.1:c.498G>A, XM_047436370.1:c.498G>A

Select item 146096184511.

rs1460961845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:68515521 (GRCh38)
17:66511662 (GRCh37)
Canonical SPDI:: NC_000017.11:68515520:C:A,NC_000017.11:68515520:C:T
Gene:: PRKAR1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.68515521C>A, NC_000017.11:g.68515521C>T, NC_000017.10:g.66511662C>A, NC_000017.10:g.66511662C>T, NG_007093.3:g.106899C>A, NG_007093.3:g.106899C>T, NM_002734.5:c.122C>A, NM_002734.5:c.122C>T, NM_002734.4:c.122C>A, NM_002734.4:c.122C>T, NM_212471.3:c.122C>A, NM_212471.3:c.122C>T, NM_212471.2:c.122C>A, NM_212471.2:c.122C>T, NM_001276289.2:c.122C>A, NM_001276289.2:c.122C>T, NM_001276289.1:c.122C>A, NM_001276289.1:c.122C>T, NM_212472.2:c.122C>A, NM_212472.2:c.122C>T, NM_001278433.2:c.122C>A, NM_001278433.2:c.122C>T, NM_001278433.1:c.122C>A, NM_001278433.1:c.122C>T, NM_001369389.1:c.122C>A, NM_001369389.1:c.122C>T, NM_001369390.1:c.122C>A, NM_001369390.1:c.122C>T, NM_001276290.1:c.122C>A, NM_001276290.1:c.122C>T, XM_011524984.4:c.122C>A, XM_011524984.4:c.122C>T, XM_011524984.3:c.122C>A, XM_011524984.3:c.122C>T, XM_011524984.2:c.122C>A, XM_011524984.2:c.122C>T, XM_011524984.1:c.122C>A, XM_011524984.1:c.122C>T, XM_047436369.1:c.122C>A, XM_047436369.1:c.122C>T, XM_047436370.1:c.122C>A, XM_047436370.1:c.122C>T, NP_002725.1:p.Ala41Asp, NP_002725.1:p.Ala41Val, NP_997636.1:p.Ala41Asp, NP_997636.1:p.Ala41Val, NP_001263218.1:p.Ala41Asp, NP_001263218.1:p.Ala41Val, NP_997637.1:p.Ala41Asp, NP_997637.1:p.Ala41Val, NP_001265362.1:p.Ala41Asp, NP_001265362.1:p.Ala41Val, NP_001356318.1:p.Ala41Asp, NP_001356318.1:p.Ala41Val, NP_001356319.1:p.Ala41Asp, NP_001356319.1:p.Ala41Val, NP_001263219.1:p.Ala41Asp, NP_001263219.1:p.Ala41Val, XP_011523286.1:p.Ala41Asp, XP_011523286.1:p.Ala41Val, XP_047292325.1:p.Ala41Asp, XP_047292325.1:p.Ala41Val, XP_047292326.1:p.Ala41Asp, XP_047292326.1:p.Ala41Val

Select item 145968451112.

rs1459684511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:68522843 (GRCh38)
17:66518984 (GRCh37)
Canonical SPDI:: NC_000017.11:68522842:C:A,NC_000017.11:68522842:C:G,NC_000017.11:68522842:C:T
Gene:: PRKAR1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.68522843C>A, NC_000017.11:g.68522843C>G, NC_000017.11:g.68522843C>T, NC_000017.10:g.66518984C>A, NC_000017.10:g.66518984C>G, NC_000017.10:g.66518984C>T, NG_007093.3:g.114221C>A, NG_007093.3:g.114221C>G, NG_007093.3:g.114221C>T, NM_002734.5:c.265C>A, NM_002734.5:c.265C>G, NM_002734.5:c.265C>T, NM_002734.4:c.265C>A, NM_002734.4:c.265C>G, NM_002734.4:c.265C>T, NM_212471.3:c.265C>A, NM_212471.3:c.265C>G, NM_212471.3:c.265C>T, NM_212471.2:c.265C>A, NM_212471.2:c.265C>G, NM_212471.2:c.265C>T, NM_001276289.2:c.265C>A, NM_001276289.2:c.265C>G, NM_001276289.2:c.265C>T, NM_001276289.1:c.265C>A, NM_001276289.1:c.265C>G, NM_001276289.1:c.265C>T, NM_212472.2:c.265C>A, NM_212472.2:c.265C>G, NM_212472.2:c.265C>T, NM_001278433.2:c.265C>A, NM_001278433.2:c.265C>G, NM_001278433.2:c.265C>T, NM_001278433.1:c.265C>A, NM_001278433.1:c.265C>G, NM_001278433.1:c.265C>T, NM_001369389.1:c.265C>A, NM_001369389.1:c.265C>G, NM_001369389.1:c.265C>T, NM_001369390.1:c.265C>A, NM_001369390.1:c.265C>G, NM_001369390.1:c.265C>T, NM_001276290.1:c.265C>A, NM_001276290.1:c.265C>G, NM_001276290.1:c.265C>T, XM_011524984.4:c.265C>A, XM_011524984.4:c.265C>G, XM_011524984.4:c.265C>T, XM_011524984.3:c.265C>A, XM_011524984.3:c.265C>G, XM_011524984.3:c.265C>T, XM_011524984.2:c.265C>A, XM_011524984.2:c.265C>G, XM_011524984.2:c.265C>T, XM_011524984.1:c.265C>A, XM_011524984.1:c.265C>G, XM_011524984.1:c.265C>T, XM_047436369.1:c.265C>A, XM_047436369.1:c.265C>G, XM_047436369.1:c.265C>T, XM_047436370.1:c.265C>A, XM_047436370.1:c.265C>G, XM_047436370.1:c.265C>T, NP_002725.1:p.Pro89Thr, NP_002725.1:p.Pro89Ala, NP_002725.1:p.Pro89Ser, NP_997636.1:p.Pro89Thr, NP_997636.1:p.Pro89Ala, NP_997636.1:p.Pro89Ser, NP_001263218.1:p.Pro89Thr, NP_001263218.1:p.Pro89Ala, NP_001263218.1:p.Pro89Ser, NP_997637.1:p.Pro89Thr, NP_997637.1:p.Pro89Ala, NP_997637.1:p.Pro89Ser, NP_001265362.1:p.Pro89Thr, NP_001265362.1:p.Pro89Ala, NP_001265362.1:p.Pro89Ser, NP_001356318.1:p.Pro89Thr, NP_001356318.1:p.Pro89Ala, NP_001356318.1:p.Pro89Ser, NP_001356319.1:p.Pro89Thr, NP_001356319.1:p.Pro89Ala, NP_001356319.1:p.Pro89Ser, NP_001263219.1:p.Pro89Thr, NP_001263219.1:p.Pro89Ala, NP_001263219.1:p.Pro89Ser, XP_011523286.1:p.Pro89Thr, XP_011523286.1:p.Pro89Ala, XP_011523286.1:p.Pro89Ser, XP_047292325.1:p.Pro89Thr, XP_047292325.1:p.Pro89Ala, XP_047292325.1:p.Pro89Ser, XP_047292326.1:p.Pro89Thr, XP_047292326.1:p.Pro89Ala, XP_047292326.1:p.Pro89Ser

Select item 145695902213.

rs1456959022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:68522837 (GRCh38)
17:66518978 (GRCh37)
Canonical SPDI:: NC_000017.11:68522836:C:T
Gene:: PRKAR1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (KOREAN)
T=0.000004/1 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.68522837C>T, NC_000017.10:g.66518978C>T, NG_007093.3:g.114215C>T, NM_002734.5:c.259C>T, NM_002734.4:c.259C>T, NM_212471.3:c.259C>T, NM_212471.2:c.259C>T, NM_001276289.2:c.259C>T, NM_001276289.1:c.259C>T, NM_212472.2:c.259C>T, NM_001278433.2:c.259C>T, NM_001278433.1:c.259C>T, NM_001369389.1:c.259C>T, NM_001369390.1:c.259C>T, NM_001276290.1:c.259C>T, XM_011524984.4:c.259C>T, XM_011524984.3:c.259C>T, XM_011524984.2:c.259C>T, XM_011524984.1:c.259C>T, XM_047436369.1:c.259C>T, XM_047436370.1:c.259C>T, NP_002725.1:p.Pro87Ser, NP_997636.1:p.Pro87Ser, NP_001263218.1:p.Pro87Ser, NP_997637.1:p.Pro87Ser, NP_001265362.1:p.Pro87Ser, NP_001356318.1:p.Pro87Ser, NP_001356319.1:p.Pro87Ser, NP_001263219.1:p.Pro87Ser, XP_011523286.1:p.Pro87Ser, XP_047292325.1:p.Pro87Ser, XP_047292326.1:p.Pro87Ser

Select item 144373891414.

rs1443738914 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:68522858 (GRCh38)
17:66518999 (GRCh37)
Canonical SPDI:: NC_000017.11:68522857:A:C,NC_000017.11:68522857:A:G
Gene:: PRKAR1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.68522858A>C, NC_000017.11:g.68522858A>G, NC_000017.10:g.66518999A>C, NC_000017.10:g.66518999A>G, NG_007093.3:g.114236A>C, NG_007093.3:g.114236A>G, NM_002734.5:c.280A>C, NM_002734.5:c.280A>G, NM_002734.4:c.280A>C, NM_002734.4:c.280A>G, NM_212471.3:c.280A>C, NM_212471.3:c.280A>G, NM_212471.2:c.280A>C, NM_212471.2:c.280A>G, NM_001276289.2:c.280A>C, NM_001276289.2:c.280A>G, NM_001276289.1:c.280A>C, NM_001276289.1:c.280A>G, NM_212472.2:c.280A>C, NM_212472.2:c.280A>G, NM_001278433.2:c.280A>C, NM_001278433.2:c.280A>G, NM_001278433.1:c.280A>C, NM_001278433.1:c.280A>G, NM_001369389.1:c.280A>C, NM_001369389.1:c.280A>G, NM_001369390.1:c.280A>C, NM_001369390.1:c.280A>G, NM_001276290.1:c.280A>C, NM_001276290.1:c.280A>G, XM_011524984.4:c.280A>C, XM_011524984.4:c.280A>G, XM_011524984.3:c.280A>C, XM_011524984.3:c.280A>G, XM_011524984.2:c.280A>C, XM_011524984.2:c.280A>G, XM_011524984.1:c.280A>C, XM_011524984.1:c.280A>G, XM_047436369.1:c.280A>C, XM_047436369.1:c.280A>G, XM_047436370.1:c.280A>C, XM_047436370.1:c.280A>G, NP_002725.1:p.Arg94Gly, NP_997636.1:p.Arg94Gly, NP_001263218.1:p.Arg94Gly, NP_997637.1:p.Arg94Gly, NP_001265362.1:p.Arg94Gly, NP_001356318.1:p.Arg94Gly, NP_001356319.1:p.Arg94Gly, NP_001263219.1:p.Arg94Gly, XP_011523286.1:p.Arg94Gly, XP_047292325.1:p.Arg94Gly, XP_047292326.1:p.Arg94Gly

Select item 143856439815.

rs1438564398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:68522770 (GRCh38)
17:66518911 (GRCh37)
Canonical SPDI:: NC_000017.11:68522769:G:A,NC_000017.11:68522769:G:C
Gene:: PRKAR1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.68522770G>A, NC_000017.11:g.68522770G>C, NC_000017.10:g.66518911G>A, NC_000017.10:g.66518911G>C, NG_007093.3:g.114148G>A, NG_007093.3:g.114148G>C, NM_002734.5:c.192G>A, NM_002734.5:c.192G>C, NM_002734.4:c.192G>A, NM_002734.4:c.192G>C, NM_212471.3:c.192G>A, NM_212471.3:c.192G>C, NM_212471.2:c.192G>A, NM_212471.2:c.192G>C, NM_001276289.2:c.192G>A, NM_001276289.2:c.192G>C, NM_001276289.1:c.192G>A, NM_001276289.1:c.192G>C, NM_212472.2:c.192G>A, NM_212472.2:c.192G>C, NM_001278433.2:c.192G>A, NM_001278433.2:c.192G>C, NM_001278433.1:c.192G>A, NM_001278433.1:c.192G>C, NM_001369389.1:c.192G>A, NM_001369389.1:c.192G>C, NM_001369390.1:c.192G>A, NM_001369390.1:c.192G>C, NM_001276290.1:c.192G>A, NM_001276290.1:c.192G>C, XM_011524984.4:c.192G>A, XM_011524984.4:c.192G>C, XM_011524984.3:c.192G>A, XM_011524984.3:c.192G>C, XM_011524984.2:c.192G>A, XM_011524984.2:c.192G>C, XM_011524984.1:c.192G>A, XM_011524984.1:c.192G>C, XM_047436369.1:c.192G>A, XM_047436369.1:c.192G>C, XM_047436370.1:c.192G>A, XM_047436370.1:c.192G>C, NP_002725.1:p.Gln64His, NP_997636.1:p.Gln64His, NP_001263218.1:p.Gln64His, NP_997637.1:p.Gln64His, NP_001265362.1:p.Gln64His, NP_001356318.1:p.Gln64His, NP_001356319.1:p.Gln64His, NP_001263219.1:p.Gln64His, XP_011523286.1:p.Gln64His, XP_047292325.1:p.Gln64His, XP_047292326.1:p.Gln64His

Select item 143366679716.

rs1433666797 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:68551197 (GRCh38)
17:66547339 (GRCh37)
Canonical SPDI:: NC_000017.11:68551197:A:AA
Gene:: PRKAR1A (Varview), FAM20A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.68551198dup, NC_000017.10:g.66547339dup, NG_007093.3:g.142576dup, NM_001276290.1:c.*74dup, NG_029809.1:g.54757dup

Select item 143350027617.

rs1433500276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:68551162 (GRCh38)
17:66547303 (GRCh37)
Canonical SPDI:: NC_000017.11:68551161:G:C
Gene:: PRKAR1A (Varview), FAM20A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.68551162G>C, NC_000017.10:g.66547303G>C, NG_007093.3:g.142540G>C, NM_001276290.1:c.*38G>C, NG_029809.1:g.54793C>G

Select item 143106831718.

rs1431068317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:68527889 (GRCh38)
17:66524030 (GRCh37)
Canonical SPDI:: NC_000017.11:68527888:T:C
Gene:: PRKAR1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000017.11:g.68527889T>C, NC_000017.10:g.66524030T>C, NG_007093.3:g.119267T>C, NM_002734.5:c.758T>C, NM_002734.4:c.758T>C, NM_212471.3:c.758T>C, NM_212471.2:c.758T>C, NM_001276289.2:c.758T>C, NM_001276289.1:c.758T>C, NM_212472.2:c.758T>C, NM_001278433.2:c.758T>C, NM_001278433.1:c.758T>C, NM_001369389.1:c.758T>C, NM_001369390.1:c.758T>C, NM_001276290.1:c.758T>C, XM_011524984.4:c.758T>C, XM_011524984.3:c.758T>C, XM_011524984.2:c.758T>C, XM_011524984.1:c.758T>C, XM_047436369.1:c.758T>C, XM_047436370.1:c.758T>C, NP_002725.1:p.Val253Ala, NP_997636.1:p.Val253Ala, NP_001263218.1:p.Val253Ala, NP_997637.1:p.Val253Ala, NP_001265362.1:p.Val253Ala, NP_001356318.1:p.Val253Ala, NP_001356319.1:p.Val253Ala, NP_001263219.1:p.Val253Ala, XP_011523286.1:p.Val253Ala, XP_047292325.1:p.Val253Ala, XP_047292326.1:p.Val253Ala

Select item 142409490319.

rs1424094903 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:68529936 (GRCh38)
17:66526077 (GRCh37)
Canonical SPDI:: NC_000017.11:68529935:T:G
Gene:: PRKAR1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.68529936T>G, NC_000017.10:g.66526077T>G, NG_007093.3:g.121314T>G, NM_002734.5:c.908T>G, NM_002734.4:c.908T>G, NM_212471.3:c.908T>G, NM_212471.2:c.908T>G, NM_001276289.2:c.908T>G, NM_001276289.1:c.908T>G, NM_212472.2:c.908T>G, NM_001278433.2:c.908T>G, NM_001278433.1:c.908T>G, NM_001369389.1:c.908T>G, NM_001369390.1:c.908T>G, NM_001276290.1:c.908T>G, XM_011524984.4:c.908T>G, XM_011524984.3:c.908T>G, XM_011524984.2:c.908T>G, XM_011524984.1:c.908T>G, XM_047436369.1:c.908T>G, XM_047436370.1:c.908T>G, NP_002725.1:p.Leu303Arg, NP_997636.1:p.Leu303Arg, NP_001263218.1:p.Leu303Arg, NP_997637.1:p.Leu303Arg, NP_001265362.1:p.Leu303Arg, NP_001356318.1:p.Leu303Arg, NP_001356319.1:p.Leu303Arg, NP_001263219.1:p.Leu303Arg, XP_011523286.1:p.Leu303Arg, XP_047292325.1:p.Leu303Arg, XP_047292326.1:p.Leu303Arg

Select item 142358575620.

rs1423585756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:68515516 (GRCh38)
17:66511657 (GRCh37)
Canonical SPDI:: NC_000017.11:68515515:C:T
Gene:: PRKAR1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.68515516C>T, NC_000017.10:g.66511657C>T, NG_007093.3:g.106894C>T, NM_002734.5:c.117C>T, NM_002734.4:c.117C>T, NM_212471.3:c.117C>T, NM_212471.2:c.117C>T, NM_001276289.2:c.117C>T, NM_001276289.1:c.117C>T, NM_212472.2:c.117C>T, NM_001278433.2:c.117C>T, NM_001278433.1:c.117C>T, NM_001369389.1:c.117C>T, NM_001369390.1:c.117C>T, NM_001276290.1:c.117C>T, XM_011524984.4:c.117C>T, XM_011524984.3:c.117C>T, XM_011524984.2:c.117C>T, XM_011524984.1:c.117C>T, XM_047436369.1:c.117C>T, XM_047436370.1:c.117C>T

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