SNP Links for Protein (Select 11037061) - SNP

Links from Protein

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Select item 14894807751.

rs1489480775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:32603238 (GRCh38)
21:33975548 (GRCh37)
Canonical SPDI:: NC_000021.9:32603237:C:T
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.32603238C>T, NC_000021.8:g.33975548C>T, NG_033839.2:g.14371G>A, NM_021254.4:c.589G>A, NM_021254.3:c.589G>A, NM_021254.2:c.589G>A, NM_001350334.2:c.292G>A, NM_001350334.1:c.292G>A, NM_001350336.2:c.589G>A, NM_001350336.1:c.589G>A, NM_001350335.2:c.589G>A, NM_001350335.1:c.589G>A, NM_001350337.2:c.589G>A, NM_001350337.1:c.589G>A, NR_146639.2:n.723G>A, NR_146639.1:n.1217G>A, NR_146638.2:n.723G>A, NR_146638.1:n.1217G>A, NM_001350338.2:c.589G>A, NM_001350338.1:c.589G>A, NR_036552.1:n.881G>A, NM_017835.1:c.*104G>A, NP_067077.1:p.Glu197Lys, NP_001337263.1:p.Glu98Lys, NP_001337265.1:p.Glu197Lys, NP_001337264.1:p.Glu197Lys, NP_001337266.1:p.Glu197Lys, NP_001337267.1:p.Glu197Lys

Select item 14888711742.

rs1488871174 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:32602279 (GRCh38)
21:33974589 (GRCh37)
Canonical SPDI:: NC_000021.9:32602278:T:A
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.32602279T>A, NC_000021.8:g.33974589T>A, NG_033839.2:g.15330A>T, NM_021254.4:c.755A>T, NM_021254.3:c.755A>T, NM_021254.2:c.755A>T, NM_001350334.2:c.458A>T, NM_001350334.1:c.458A>T, NM_001350335.2:c.*810A>T, NM_001350335.1:c.*810A>T, NM_001350337.2:c.755A>T, NM_001350337.1:c.755A>T, NR_036552.1:n.1047A>T, NM_017835.1:c.*270A>T, NP_067077.1:p.Glu252Val, NP_001337263.1:p.Glu153Val, NP_001337266.1:p.Glu252Val

Select item 14820113653.

rs1482011365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:32603287 (GRCh38)
21:33975597 (GRCh37)
Canonical SPDI:: NC_000021.9:32603286:C:A
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000021.9:g.32603287C>A, NC_000021.8:g.33975597C>A, NG_033839.2:g.14322G>T, NM_021254.4:c.540G>T, NM_021254.3:c.540G>T, NM_021254.2:c.540G>T, NM_001350334.2:c.243G>T, NM_001350334.1:c.243G>T, NM_001350336.2:c.540G>T, NM_001350336.1:c.540G>T, NM_001350335.2:c.540G>T, NM_001350335.1:c.540G>T, NM_001350337.2:c.540G>T, NM_001350337.1:c.540G>T, NR_146639.2:n.674G>T, NR_146639.1:n.1168G>T, NR_146638.2:n.674G>T, NR_146638.1:n.1168G>T, NM_001350338.2:c.540G>T, NM_001350338.1:c.540G>T, NR_036552.1:n.832G>T, NM_017835.1:c.*55G>T

Select item 14810073214.

rs1481007321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:32612237 (GRCh38)
21:33984547 (GRCh37)
Canonical SPDI:: NC_000021.9:32612236:G:C
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (KOREAN)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.32612237G>C, NC_000021.8:g.33984547G>C, NG_033839.2:g.5372C>G, NM_021254.4:c.7C>G, NM_021254.3:c.7C>G, NM_021254.2:c.7C>G, NM_001350334.2:c.-223C>G, NM_001350334.1:c.-223C>G, NM_001350336.2:c.7C>G, NM_001350336.1:c.7C>G, NM_001350335.2:c.7C>G, NM_001350335.1:c.7C>G, NM_001350337.2:c.7C>G, NM_001350337.1:c.7C>G, NR_146639.2:n.141C>G, NR_146639.1:n.635C>G, NR_146638.2:n.141C>G, NR_146638.1:n.635C>G, NM_001350338.2:c.7C>G, NM_001350338.1:c.7C>G, NR_036552.1:n.367C>G, NM_017835.1:c.7C>G, NP_067077.1:p.Leu3Val, NP_001337265.1:p.Leu3Val, NP_001337264.1:p.Leu3Val, NP_001337266.1:p.Leu3Val, NP_001337267.1:p.Leu3Val

Select item 14791029225.

rs1479102922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:32612171 (GRCh38)
21:33984481 (GRCh37)
Canonical SPDI:: NC_000021.9:32612170:C:T
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.32612171C>T, NC_000021.8:g.33984481C>T, NG_033839.2:g.5438G>A, NM_021254.4:c.73G>A, NM_021254.3:c.73G>A, NM_021254.2:c.73G>A, NM_001350334.2:c.-157G>A, NM_001350334.1:c.-157G>A, NM_001350336.2:c.73G>A, NM_001350336.1:c.73G>A, NM_001350335.2:c.73G>A, NM_001350335.1:c.73G>A, NM_001350337.2:c.73G>A, NM_001350337.1:c.73G>A, NR_146639.2:n.207G>A, NR_146639.1:n.701G>A, NR_146638.2:n.207G>A, NR_146638.1:n.701G>A, NM_001350338.2:c.73G>A, NM_001350338.1:c.73G>A, NR_036552.1:n.433G>A, NM_017835.1:c.73G>A, NP_067077.1:p.Glu25Lys, NP_001337265.1:p.Glu25Lys, NP_001337264.1:p.Glu25Lys, NP_001337266.1:p.Glu25Lys, NP_001337267.1:p.Glu25Lys

Select item 14779701696.

rs1477970169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:32607667 (GRCh38)
21:33979977 (GRCh37)
Canonical SPDI:: NC_000021.9:32607666:G:A
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.32607667G>A, NC_000021.8:g.33979977G>A, NG_033839.2:g.9942C>T, NM_021254.4:c.357C>T, NM_021254.3:c.357C>T, NM_021254.2:c.357C>T, NM_001350336.2:c.357C>T, NM_001350336.1:c.357C>T, NM_001350335.2:c.357C>T, NM_001350335.1:c.357C>T, NM_001350337.2:c.357C>T, NM_001350337.1:c.357C>T, NR_146639.2:n.491C>T, NR_146639.1:n.985C>T, NR_146638.2:n.491C>T, NR_146638.1:n.985C>T, NM_001350338.2:c.357C>T, NM_001350338.1:c.357C>T

Select item 14725595927.

rs1472559592 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:32602282 (GRCh38)
21:33974592 (GRCh37)
Canonical SPDI:: NC_000021.9:32602281:T:C
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
HGVS:: NC_000021.9:g.32602282T>C, NC_000021.8:g.33974592T>C, NG_033839.2:g.15327A>G, NM_021254.4:c.752A>G, NM_021254.3:c.752A>G, NM_021254.2:c.752A>G, NM_001350334.2:c.455A>G, NM_001350334.1:c.455A>G, NM_001350335.2:c.*807A>G, NM_001350335.1:c.*807A>G, NM_001350337.2:c.752A>G, NM_001350337.1:c.752A>G, NR_036552.1:n.1044A>G, NM_017835.1:c.*267A>G, NP_067077.1:p.Glu251Gly, NP_001337263.1:p.Glu152Gly, NP_001337266.1:p.Glu251Gly

Select item 14715813118.

rs1471581311 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:32607655 (GRCh38)
21:33979965 (GRCh37)
Canonical SPDI:: NC_000021.9:32607654:T:C
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.32607655T>C, NC_000021.8:g.33979965T>C, NG_033839.2:g.9954A>G, NM_021254.4:c.369A>G, NM_021254.3:c.369A>G, NM_021254.2:c.369A>G, NM_001350336.2:c.369A>G, NM_001350336.1:c.369A>G, NM_001350335.2:c.369A>G, NM_001350335.1:c.369A>G, NM_001350337.2:c.369A>G, NM_001350337.1:c.369A>G, NR_146639.2:n.503A>G, NR_146639.1:n.997A>G, NR_146638.2:n.503A>G, NR_146638.1:n.997A>G, NM_001350338.2:c.369A>G, NM_001350338.1:c.369A>G, NP_067077.1:p.Ile123Met, NP_001337265.1:p.Ile123Met, NP_001337264.1:p.Ile123Met, NP_001337266.1:p.Ile123Met, NP_001337267.1:p.Ile123Met

Select item 14705474259.

rs1470547425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:32604212 (GRCh38)
21:33976522 (GRCh37)
Canonical SPDI:: NC_000021.9:32604211:C:T
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000021.9:g.32604212C>T, NC_000021.8:g.33976522C>T, NG_033839.2:g.13397G>A, NM_021254.4:c.447G>A, NM_021254.3:c.447G>A, NM_021254.2:c.447G>A, NM_001350334.2:c.150G>A, NM_001350334.1:c.150G>A, NM_001350336.2:c.447G>A, NM_001350336.1:c.447G>A, NM_001350335.2:c.447G>A, NM_001350335.1:c.447G>A, NM_001350337.2:c.447G>A, NM_001350337.1:c.447G>A, NR_146639.2:n.581G>A, NR_146639.1:n.1075G>A, NR_146638.2:n.581G>A, NR_146638.1:n.1075G>A, NM_001350338.2:c.447G>A, NM_001350338.1:c.447G>A, NR_036552.1:n.739G>A, NM_017835.1:c.379G>A

Select item 146997893310.

rs1469978933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:32612182 (GRCh38)
21:33984492 (GRCh37)
Canonical SPDI:: NC_000021.9:32612181:C:T
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.32612182C>T, NC_000021.8:g.33984492C>T, NG_033839.2:g.5427G>A, NM_021254.4:c.62G>A, NM_021254.3:c.62G>A, NM_021254.2:c.62G>A, NM_001350334.2:c.-168G>A, NM_001350334.1:c.-168G>A, NM_001350336.2:c.62G>A, NM_001350336.1:c.62G>A, NM_001350335.2:c.62G>A, NM_001350335.1:c.62G>A, NM_001350337.2:c.62G>A, NM_001350337.1:c.62G>A, NR_146639.2:n.196G>A, NR_146639.1:n.690G>A, NR_146638.2:n.196G>A, NR_146638.1:n.690G>A, NM_001350338.2:c.62G>A, NM_001350338.1:c.62G>A, NR_036552.1:n.422G>A, NM_017835.1:c.62G>A, NP_067077.1:p.Ser21Asn, NP_001337265.1:p.Ser21Asn, NP_001337264.1:p.Ser21Asn, NP_001337266.1:p.Ser21Asn, NP_001337267.1:p.Ser21Asn

Select item 146700687211.

rs1467006872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:32601973 (GRCh38)
21:33974283 (GRCh37)
Canonical SPDI:: NC_000021.9:32601972:T:G
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.32601973T>G, NC_000021.8:g.33974283T>G, NG_033839.2:g.15636A>C, NM_021254.4:c.763A>C, NM_021254.3:c.763A>C, NM_021254.2:c.763A>C, NM_001350334.2:c.466A>C, NM_001350334.1:c.466A>C, NM_001350336.2:c.667A>C, NM_001350336.1:c.667A>C, NM_001350335.2:c.*1116A>C, NM_001350335.1:c.*1116A>C, NM_001350337.2:c.*251A>C, NM_001350337.1:c.*251A>C, NR_036552.1:n.1055A>C, NM_017835.1:c.*278A>C

Select item 146676838112.

rs1466768381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:32602356 (GRCh38)
21:33974666 (GRCh37)
Canonical SPDI:: NC_000021.9:32602355:T:C
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.32602356T>C, NC_000021.8:g.33974666T>C, NG_033839.2:g.15253A>G, NM_021254.4:c.678A>G, NM_021254.3:c.678A>G, NM_021254.2:c.678A>G, NM_001350334.2:c.381A>G, NM_001350334.1:c.381A>G, NM_001350335.2:c.*733A>G, NM_001350335.1:c.*733A>G, NM_001350337.2:c.678A>G, NM_001350337.1:c.678A>G, NR_036552.1:n.970A>G, NM_017835.1:c.*193A>G

Select item 146366975713.

rs1463669757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:32604252 (GRCh38)
21:33976562 (GRCh37)
Canonical SPDI:: NC_000021.9:32604251:A:G
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.32604252A>G, NC_000021.8:g.33976562A>G, NG_033839.2:g.13357T>C, NM_021254.4:c.407T>C, NM_021254.3:c.407T>C, NM_021254.2:c.407T>C, NM_001350334.2:c.110T>C, NM_001350334.1:c.110T>C, NM_001350336.2:c.407T>C, NM_001350336.1:c.407T>C, NM_001350335.2:c.407T>C, NM_001350335.1:c.407T>C, NM_001350337.2:c.407T>C, NM_001350337.1:c.407T>C, NR_146639.2:n.541T>C, NR_146639.1:n.1035T>C, NR_146638.2:n.541T>C, NR_146638.1:n.1035T>C, NM_001350338.2:c.407T>C, NM_001350338.1:c.407T>C, NR_036552.1:n.699T>C, NM_017835.1:c.339T>C, NP_067077.1:p.Met136Thr, NP_001337263.1:p.Met37Thr, NP_001337265.1:p.Met136Thr, NP_001337264.1:p.Met136Thr, NP_001337266.1:p.Met136Thr, NP_001337267.1:p.Met136Thr

Select item 145897554814.

rs1458975548 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 21:32603222 (GRCh38)
21:33975532 (GRCh37)
Canonical SPDI:: NC_000021.9:32603217:CTTCTTC:CTTC
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.32603219TTC[1], NC_000021.8:g.33975529TTC[1], NG_033839.2:g.14386AAG[1], NM_021254.4:c.604AAG[1], NM_021254.3:c.604AAG[1], NM_021254.2:c.604AAG[1], NM_001350334.2:c.307AAG[1], NM_001350334.1:c.307AAG[1], NM_001350336.2:c.604AAG[1], NM_001350336.1:c.604AAG[1], NM_001350335.2:c.604AAG[1], NM_001350335.1:c.604AAG[1], NM_001350337.2:c.604AAG[1], NM_001350337.1:c.604AAG[1], NR_146639.2:n.738AAG[1], NR_146639.1:n.1232AAG[1], NR_146638.2:n.738AAG[1], NR_146638.1:n.1232AAG[1], NM_001350338.2:c.604AAG[1], NM_001350338.1:c.604AAG[1], NR_036552.1:n.896AAG[1], NM_017835.1:c.*119AAG[1], NP_067077.1:p.Lys203del, NP_001337263.1:p.Lys104del, NP_001337265.1:p.Lys203del, NP_001337264.1:p.Lys203del, NP_001337266.1:p.Lys203del, NP_001337267.1:p.Lys203del

Select item 145771349415.

rs1457713494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:32603225 (GRCh38)
21:33975535 (GRCh37)
Canonical SPDI:: NC_000021.9:32603224:G:A,NC_000021.9:32603224:G:C
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.32603225G>A, NC_000021.9:g.32603225G>C, NC_000021.8:g.33975535G>A, NC_000021.8:g.33975535G>C, NG_033839.2:g.14384C>T, NG_033839.2:g.14384C>G, NM_021254.4:c.602C>T, NM_021254.4:c.602C>G, NM_021254.3:c.602C>T, NM_021254.3:c.602C>G, NM_021254.2:c.602C>T, NM_021254.2:c.602C>G, NM_001350334.2:c.305C>T, NM_001350334.2:c.305C>G, NM_001350334.1:c.305C>T, NM_001350334.1:c.305C>G, NM_001350336.2:c.602C>T, NM_001350336.2:c.602C>G, NM_001350336.1:c.602C>T, NM_001350336.1:c.602C>G, NM_001350335.2:c.602C>T, NM_001350335.2:c.602C>G, NM_001350335.1:c.602C>T, NM_001350335.1:c.602C>G, NM_001350337.2:c.602C>T, NM_001350337.2:c.602C>G, NM_001350337.1:c.602C>T, NM_001350337.1:c.602C>G, NR_146639.2:n.736C>T, NR_146639.2:n.736C>G, NR_146639.1:n.1230C>T, NR_146639.1:n.1230C>G, NR_146638.2:n.736C>T, NR_146638.2:n.736C>G, NR_146638.1:n.1230C>T, NR_146638.1:n.1230C>G, NM_001350338.2:c.602C>T, NM_001350338.2:c.602C>G, NM_001350338.1:c.602C>T, NM_001350338.1:c.602C>G, NR_036552.1:n.894C>T, NR_036552.1:n.894C>G, NM_017835.1:c.*117C>T, NM_017835.1:c.*117C>G, NP_067077.1:p.Thr201Met, NP_067077.1:p.Thr201Arg, NP_001337263.1:p.Thr102Met, NP_001337263.1:p.Thr102Arg, NP_001337265.1:p.Thr201Met, NP_001337265.1:p.Thr201Arg, NP_001337264.1:p.Thr201Met, NP_001337264.1:p.Thr201Arg, NP_001337266.1:p.Thr201Met, NP_001337266.1:p.Thr201Arg, NP_001337267.1:p.Thr201Met, NP_001337267.1:p.Thr201Arg

Select item 145447638416.

rs1454476384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:32603239 (GRCh38)
21:33975549 (GRCh37)
Canonical SPDI:: NC_000021.9:32603238:C:T
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.32603239C>T, NC_000021.8:g.33975549C>T, NG_033839.2:g.14370G>A, NM_021254.4:c.588G>A, NM_021254.3:c.588G>A, NM_021254.2:c.588G>A, NM_001350334.2:c.291G>A, NM_001350334.1:c.291G>A, NM_001350336.2:c.588G>A, NM_001350336.1:c.588G>A, NM_001350335.2:c.588G>A, NM_001350335.1:c.588G>A, NM_001350337.2:c.588G>A, NM_001350337.1:c.588G>A, NR_146639.2:n.722G>A, NR_146639.1:n.1216G>A, NR_146638.2:n.722G>A, NR_146638.1:n.1216G>A, NM_001350338.2:c.588G>A, NM_001350338.1:c.588G>A, NR_036552.1:n.880G>A, NM_017835.1:c.*103G>A

Select item 145354616817.

rs1453546168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:32601915 (GRCh38)
21:33974225 (GRCh37)
Canonical SPDI:: NC_000021.9:32601914:G:A
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.32601915G>A, NC_000021.8:g.33974225G>A, NG_033839.2:g.15694C>T, NM_021254.4:c.821C>T, NM_021254.3:c.821C>T, NM_021254.2:c.821C>T, NM_001350334.2:c.524C>T, NM_001350334.1:c.524C>T, NM_001350336.2:c.725C>T, NM_001350336.1:c.725C>T, NM_001350335.2:c.*1174C>T, NM_001350335.1:c.*1174C>T, NM_001350337.2:c.*309C>T, NM_001350337.1:c.*309C>T, NR_036552.1:n.1113C>T, NM_017835.1:c.*336C>T, NP_067077.1:p.Ala274Val, NP_001337263.1:p.Ala175Val, NP_001337265.1:p.Ala242Val

Select item 144784775918.

rs1447847759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:32601948 (GRCh38)
21:33974258 (GRCh37)
Canonical SPDI:: NC_000021.9:32601947:G:A
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.32601948G>A, NC_000021.8:g.33974258G>A, NG_033839.2:g.15661C>T, NM_021254.4:c.788C>T, NM_021254.3:c.788C>T, NM_021254.2:c.788C>T, NM_001350334.2:c.491C>T, NM_001350334.1:c.491C>T, NM_001350336.2:c.692C>T, NM_001350336.1:c.692C>T, NM_001350335.2:c.*1141C>T, NM_001350335.1:c.*1141C>T, NM_001350337.2:c.*276C>T, NM_001350337.1:c.*276C>T, NR_036552.1:n.1080C>T, NM_017835.1:c.*303C>T, NP_067077.1:p.Ala263Val, NP_001337263.1:p.Ala164Val, NP_001337265.1:p.Ala231Val

Select item 144600470719.

rs1446004707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:32607662 (GRCh38)
21:33979972 (GRCh37)
Canonical SPDI:: NC_000021.9:32607661:G:C
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000177/3 (TOMMO)
C=0.000342/1 (KOREAN)
C=0.000546/1 (Korea1K)
HGVS:: NC_000021.9:g.32607662G>C, NC_000021.8:g.33979972G>C, NG_033839.2:g.9947C>G, NM_021254.4:c.362C>G, NM_021254.3:c.362C>G, NM_021254.2:c.362C>G, NM_001350336.2:c.362C>G, NM_001350336.1:c.362C>G, NM_001350335.2:c.362C>G, NM_001350335.1:c.362C>G, NM_001350337.2:c.362C>G, NM_001350337.1:c.362C>G, NR_146639.2:n.496C>G, NR_146639.1:n.990C>G, NR_146638.2:n.496C>G, NR_146638.1:n.990C>G, NM_001350338.2:c.362C>G, NM_001350338.1:c.362C>G, NP_067077.1:p.Ala121Gly, NP_001337265.1:p.Ala121Gly, NP_001337264.1:p.Ala121Gly, NP_001337266.1:p.Ala121Gly, NP_001337267.1:p.Ala121Gly

Select item 144493558120.

rs1444935581 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:32601899 (GRCh38)
21:33974209 (GRCh37)
Canonical SPDI:: NC_000021.9:32601898:A:C
Gene:: CFAP298 (Varview), CFAP298-TCP10L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.32601899A>C, NC_000021.8:g.33974209A>C, NG_033839.2:g.15710T>G, NM_021254.4:c.837T>G, NM_021254.3:c.837T>G, NM_021254.2:c.837T>G, NM_001350334.2:c.540T>G, NM_001350334.1:c.540T>G, NM_001350336.2:c.741T>G, NM_001350336.1:c.741T>G, NM_001350335.2:c.*1190T>G, NM_001350335.1:c.*1190T>G, NM_001350337.2:c.*325T>G, NM_001350337.1:c.*325T>G, NR_036552.1:n.1129T>G, NM_017835.1:c.*352T>G, NP_067077.1:p.Phe279Leu, NP_001337263.1:p.Phe180Leu, NP_001337265.1:p.Phe247Leu

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