SNP Links for Protein (Select 1100818988) - SNP

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Links from Protein

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Select item 14844057911.

rs1484405791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:39190388 (GRCh38)
2:39417529 (GRCh37)
Canonical SPDI:: NC_000002.12:39190387:A:G
Gene:: CDKL4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39190388A>G, NC_000002.11:g.39417529A>G, XM_011532815.4:c.569T>C, XM_011532815.3:c.569T>C, XM_011532815.2:c.569T>C, XM_011532815.1:c.569T>C, XR_001738736.2:n.2290T>C, XR_001738736.1:n.1985T>C, NM_001009565.2:c.569T>C, NM_001009565.1:c.569T>C, XM_017003982.2:c.569T>C, XM_017003982.1:c.569T>C, XM_047444141.1:c.569T>C, NR_144521.1:n.847T>C, NR_144520.1:n.734T>C, XM_047444142.1:c.569T>C, NM_001397900.1:c.569T>C, NM_001346911.1:c.569T>C, XR_007073748.1:n.834T>C, XP_011531117.1:p.Val190Ala, NP_001009565.1:p.Val190Ala, XP_016859471.1:p.Val190Ala, XP_047300097.1:p.Val190Ala, XP_047300098.1:p.Val190Ala, NP_001384829.1:p.Val190Ala, NP_001333840.1:p.Val190Ala

Select item 14837543482.

rs1483754348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:39178590 (GRCh38)
2:39405731 (GRCh37)
Canonical SPDI:: NC_000002.12:39178589:G:A,NC_000002.12:39178589:G:C
Gene:: CDKL4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.39178590G>A, NC_000002.12:g.39178590G>C, NC_000002.11:g.39405731G>A, NC_000002.11:g.39405731G>C, XM_011532815.4:c.1097C>T, XM_011532815.4:c.1097C>G, XM_011532815.3:c.1097C>T, XM_011532815.3:c.1097C>G, XM_011532815.2:c.1097C>T, XM_011532815.2:c.1097C>G, XM_011532815.1:c.1097C>T, XM_011532815.1:c.1097C>G, NM_001009565.2:c.*576C>T, NM_001009565.2:c.*576C>G, NM_001009565.1:c.*576C>T, NM_001009565.1:c.*576C>G, NR_144520.1:n.1689C>T, NR_144520.1:n.1689C>G, XM_047444142.1:c.*576C>T, XM_047444142.1:c.*576C>G, NM_001346911.1:c.1097C>T, NM_001346911.1:c.1097C>G, XP_011531117.1:p.Thr366Ile, XP_011531117.1:p.Thr366Ser, NP_001333840.1:p.Thr366Ile, NP_001333840.1:p.Thr366Ser

Select item 14830562563.

rs1483056256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:39229439 (GRCh38)
2:39456580 (GRCh37)
Canonical SPDI:: NC_000002.12:39229438:C:T
Gene:: CDKL4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.39229439C>T, NC_000002.11:g.39456580C>T, XM_011532815.4:c.94G>A, XM_011532815.3:c.94G>A, XM_011532815.2:c.94G>A, XM_011532815.1:c.94G>A, XM_011532817.3:c.94G>A, XM_011532817.2:c.94G>A, XM_011532817.1:c.94G>A, XM_011532819.3:c.94G>A, XM_011532819.2:c.94G>A, XM_011532819.1:c.94G>A, XM_017003985.2:c.94G>A, XM_017003985.1:c.94G>A, XR_001738736.2:n.1815G>A, XR_001738736.1:n.1510G>A, XM_017003984.2:c.94G>A, XM_017003984.1:c.94G>A, NM_001009565.2:c.94G>A, NM_001009565.1:c.94G>A, XM_017003982.2:c.94G>A, XM_017003982.1:c.94G>A, XM_047444141.1:c.94G>A, NR_144521.1:n.263G>A, NR_144520.1:n.150G>A, XM_047444142.1:c.94G>A, NM_001397900.1:c.94G>A, NM_001346911.1:c.94G>A, XR_007073748.1:n.250G>A, XP_011531117.1:p.Val32Ile, XP_011531119.1:p.Val32Ile, XP_011531121.1:p.Val32Ile, XP_016859474.1:p.Val32Ile, XP_016859473.1:p.Val32Ile, NP_001009565.1:p.Val32Ile, XP_016859471.1:p.Val32Ile, XP_047300097.1:p.Val32Ile, XP_047300098.1:p.Val32Ile, NP_001384829.1:p.Val32Ile, NP_001333840.1:p.Val32Ile

Select item 14826432944.

rs1482643294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:39179290 (GRCh38)
2:39406431 (GRCh37)
Canonical SPDI:: NC_000002.12:39179289:A:G
Gene:: CDKL4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.39179290A>G, NC_000002.11:g.39406431A>G, XM_011532815.4:c.824T>C, XM_011532815.3:c.824T>C, XM_011532815.2:c.824T>C, XM_011532815.1:c.824T>C, XM_011532817.3:c.701T>C, XM_011532817.2:c.701T>C, XM_011532817.1:c.701T>C, NM_001009565.2:c.824T>C, NM_001009565.1:c.824T>C, XM_017003982.2:c.824T>C, XM_017003982.1:c.824T>C, XM_047444141.1:c.824T>C, NR_144521.1:n.1102T>C, NR_144520.1:n.989T>C, XM_047444142.1:c.824T>C, NM_001397900.1:c.824T>C, NM_001346911.1:c.824T>C, XP_011531117.1:p.Leu275Ser, XP_011531119.1:p.Leu234Ser, NP_001009565.1:p.Leu275Ser, XP_016859471.1:p.Leu275Ser, XP_047300097.1:p.Leu275Ser, XP_047300098.1:p.Leu275Ser, NP_001384829.1:p.Leu275Ser, NP_001333840.1:p.Leu275Ser

Select item 14817039945.

rs1481703994 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:39184596 (GRCh38)
2:39411737 (GRCh37)
Canonical SPDI:: NC_000002.12:39184595:T:C
Gene:: CDKL4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.39184596T>C, NC_000002.11:g.39411737T>C, XM_011532815.4:c.787A>G, XM_011532815.3:c.787A>G, XM_011532815.2:c.787A>G, XM_011532815.1:c.787A>G, XM_011532817.3:c.664A>G, XM_011532817.2:c.664A>G, XM_011532817.1:c.664A>G, NM_001009565.2:c.787A>G, NM_001009565.1:c.787A>G, XM_017003982.2:c.787A>G, XM_017003982.1:c.787A>G, XM_047444141.1:c.787A>G, NR_144521.1:n.1065A>G, NR_144520.1:n.952A>G, XM_047444142.1:c.787A>G, NM_001397900.1:c.787A>G, NM_001346911.1:c.787A>G, XP_011531117.1:p.Met263Val, XP_011531119.1:p.Met222Val, NP_001009565.1:p.Met263Val, XP_016859471.1:p.Met263Val, XP_047300097.1:p.Met263Val, XP_047300098.1:p.Met263Val, NP_001384829.1:p.Met263Val, NP_001333840.1:p.Met263Val

Select item 14780769536.

rs1478076953 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:39213450 (GRCh38)
2:39440591 (GRCh37)
Canonical SPDI:: NC_000002.12:39213449:T:C
Gene:: CDKL4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39213450T>C, NC_000002.11:g.39440591T>C, XM_011532815.4:c.313A>G, XM_011532815.3:c.313A>G, XM_011532815.2:c.313A>G, XM_011532815.1:c.313A>G, XM_011532817.3:c.313A>G, XM_011532817.2:c.313A>G, XM_011532817.1:c.313A>G, XM_011532819.3:c.313A>G, XM_011532819.2:c.313A>G, XM_011532819.1:c.313A>G, XM_017003985.2:c.313A>G, XM_017003985.1:c.313A>G, XR_001738736.2:n.2034A>G, XR_001738736.1:n.1729A>G, XM_017003984.2:c.313A>G, XM_017003984.1:c.313A>G, NM_001009565.2:c.313A>G, NM_001009565.1:c.313A>G, XM_017003982.2:c.313A>G, XM_017003982.1:c.313A>G, XM_047444141.1:c.313A>G, NR_144521.1:n.482A>G, NR_144520.1:n.369A>G, XM_047444142.1:c.313A>G, NM_001397900.1:c.313A>G, NM_001346911.1:c.313A>G, XR_007073748.1:n.469A>G, XP_011531117.1:p.Ser105Gly, XP_011531119.1:p.Ser105Gly, XP_011531121.1:p.Ser105Gly, XP_016859474.1:p.Ser105Gly, XP_016859473.1:p.Ser105Gly, NP_001009565.1:p.Ser105Gly, XP_016859471.1:p.Ser105Gly, XP_047300097.1:p.Ser105Gly, XP_047300098.1:p.Ser105Gly, NP_001384829.1:p.Ser105Gly, NP_001333840.1:p.Ser105Gly

Select item 14774809147.

rs1477480914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:39178750 (GRCh38)
2:39405891 (GRCh37)
Canonical SPDI:: NC_000002.12:39178749:T:G
Gene:: CDKL4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
HGVS:: NC_000002.12:g.39178750T>G, NC_000002.11:g.39405891T>G, XM_011532815.4:c.937A>C, XM_011532815.3:c.937A>C, XM_011532815.2:c.937A>C, XM_011532815.1:c.937A>C, NM_001009565.2:c.*416A>C, NM_001009565.1:c.*416A>C, NR_144520.1:n.1529A>C, XM_047444142.1:c.*416A>C, NM_001346911.1:c.937A>C, XP_011531117.1:p.Lys313Gln, NP_001333840.1:p.Lys313Gln

Select item 14742201828.

rs1474220182 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:39190318 (GRCh38)
2:39417459 (GRCh37)
Canonical SPDI:: NC_000002.12:39190317:T:C
Gene:: CDKL4 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39190318T>C, NC_000002.11:g.39417459T>C, XM_011532815.4:c.639A>G, XM_011532815.3:c.639A>G, XM_011532815.2:c.639A>G, XM_011532815.1:c.639A>G, XM_011532817.3:c.516A>G, XM_011532817.2:c.516A>G, XM_011532817.1:c.516A>G, XR_001738736.2:n.2360A>G, XR_001738736.1:n.2055A>G, NM_001009565.2:c.639A>G, NM_001009565.1:c.639A>G, XM_017003982.2:c.639A>G, XM_017003982.1:c.639A>G, XM_047444141.1:c.639A>G, NR_144521.1:n.917A>G, NR_144520.1:n.804A>G, XM_047444142.1:c.639A>G, NM_001397900.1:c.639A>G, NM_001346911.1:c.639A>G, XR_007073748.1:n.904A>G, XP_011531117.1:p.Ile213Met, XP_011531119.1:p.Ile172Met, NP_001009565.1:p.Ile213Met, XP_016859471.1:p.Ile213Met, XP_047300097.1:p.Ile213Met, XP_047300098.1:p.Ile213Met, NP_001384829.1:p.Ile213Met, NP_001333840.1:p.Ile213Met

Select item 14739435349.

rs1473943534 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:39178690 (GRCh38)
2:39405831 (GRCh37)
Canonical SPDI:: NC_000002.12:39178689:T:G
Gene:: CDKL4 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39178690T>G, NC_000002.11:g.39405831T>G, XM_011532815.4:c.997A>C, XM_011532815.3:c.997A>C, XM_011532815.2:c.997A>C, XM_011532815.1:c.997A>C, NM_001009565.2:c.*476A>C, NM_001009565.1:c.*476A>C, NR_144520.1:n.1589A>C, XM_047444142.1:c.*476A>C, NM_001346911.1:c.997A>C, XP_011531117.1:p.Thr333Pro, NP_001333840.1:p.Thr333Pro

Select item 147313762910.

rs1473137629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:39229456 (GRCh38)
2:39456597 (GRCh37)
Canonical SPDI:: NC_000002.12:39229455:G:C
Gene:: CDKL4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39229456G>C, NC_000002.11:g.39456597G>C, XM_011532815.4:c.77C>G, XM_011532815.3:c.77C>G, XM_011532815.2:c.77C>G, XM_011532815.1:c.77C>G, XM_011532817.3:c.77C>G, XM_011532817.2:c.77C>G, XM_011532817.1:c.77C>G, XM_011532819.3:c.77C>G, XM_011532819.2:c.77C>G, XM_011532819.1:c.77C>G, XM_017003985.2:c.77C>G, XM_017003985.1:c.77C>G, XR_001738736.2:n.1798C>G, XR_001738736.1:n.1493C>G, XM_017003984.2:c.77C>G, XM_017003984.1:c.77C>G, NM_001009565.2:c.77C>G, NM_001009565.1:c.77C>G, XM_017003982.2:c.77C>G, XM_017003982.1:c.77C>G, XM_047444141.1:c.77C>G, NR_144521.1:n.246C>G, NR_144520.1:n.133C>G, XM_047444142.1:c.77C>G, NM_001397900.1:c.77C>G, NM_001346911.1:c.77C>G, XR_007073748.1:n.233C>G, XP_011531117.1:p.Ser26Cys, XP_011531119.1:p.Ser26Cys, XP_011531121.1:p.Ser26Cys, XP_016859474.1:p.Ser26Cys, XP_016859473.1:p.Ser26Cys, NP_001009565.1:p.Ser26Cys, XP_016859471.1:p.Ser26Cys, XP_047300097.1:p.Ser26Cys, XP_047300098.1:p.Ser26Cys, NP_001384829.1:p.Ser26Cys, NP_001333840.1:p.Ser26Cys

Select item 147288957911.

rs1472889579 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:39179281 (GRCh38)
2:39406422 (GRCh37)
Canonical SPDI:: NC_000002.12:39179280:G:A
Gene:: CDKL4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.39179281G>A, NC_000002.11:g.39406422G>A, XM_011532815.4:c.833C>T, XM_011532815.3:c.833C>T, XM_011532815.2:c.833C>T, XM_011532815.1:c.833C>T, XM_011532817.3:c.710C>T, XM_011532817.2:c.710C>T, XM_011532817.1:c.710C>T, NM_001009565.2:c.833C>T, NM_001009565.1:c.833C>T, XM_017003982.2:c.833C>T, XM_017003982.1:c.833C>T, XM_047444141.1:c.833C>T, NR_144521.1:n.1111C>T, NR_144520.1:n.998C>T, XM_047444142.1:c.833C>T, NM_001397900.1:c.833C>T, NM_001346911.1:c.833C>T, XP_011531117.1:p.Ser278Phe, XP_011531119.1:p.Ser237Phe, NP_001009565.1:p.Ser278Phe, XP_016859471.1:p.Ser278Phe, XP_047300097.1:p.Ser278Phe, XP_047300098.1:p.Ser278Phe, NP_001384829.1:p.Ser278Phe, NP_001333840.1:p.Ser278Phe

Select item 146863628412.

rs1468636284 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:39178607 (GRCh38)
2:39405748 (GRCh37)
Canonical SPDI:: NC_000002.12:39178606:A:G
Gene:: CDKL4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.39178607A>G, NC_000002.11:g.39405748A>G, XM_011532815.4:c.1080T>C, XM_011532815.3:c.1080T>C, XM_011532815.2:c.1080T>C, XM_011532815.1:c.1080T>C, NM_001009565.2:c.*559T>C, NM_001009565.1:c.*559T>C, NR_144520.1:n.1672T>C, XM_047444142.1:c.*559T>C, NM_001346911.1:c.1080T>C

Select item 146177873913.

rs1461778739 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:39178562 (GRCh38)
2:39405703 (GRCh37)
Canonical SPDI:: NC_000002.12:39178561:A:C
Gene:: CDKL4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.39178562A>C, NC_000002.11:g.39405703A>C, XM_011532815.4:c.1125T>G, XM_011532815.3:c.1125T>G, XM_011532815.2:c.1125T>G, XM_011532815.1:c.1125T>G, NM_001009565.2:c.*604T>G, NM_001009565.1:c.*604T>G, NR_144520.1:n.1717T>G, XM_047444142.1:c.*604T>G, NM_001346911.1:c.1125T>G, XP_011531117.1:p.Phe375Leu, NP_001333840.1:p.Phe375Leu

Select item 145937853114.

rs1459378531 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:39184645 (GRCh38)
2:39411786 (GRCh37)
Canonical SPDI:: NC_000002.12:39184644:T:A
Gene:: CDKL4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.39184645T>A, NC_000002.11:g.39411786T>A, XM_011532815.4:c.738A>T, XM_011532815.3:c.738A>T, XM_011532815.2:c.738A>T, XM_011532815.1:c.738A>T, XM_011532817.3:c.615A>T, XM_011532817.2:c.615A>T, XM_011532817.1:c.615A>T, NM_001009565.2:c.738A>T, NM_001009565.1:c.738A>T, XM_017003982.2:c.738A>T, XM_017003982.1:c.738A>T, XM_047444141.1:c.738A>T, NR_144521.1:n.1016A>T, NR_144520.1:n.903A>T, XM_047444142.1:c.738A>T, NM_001397900.1:c.738A>T, NM_001346911.1:c.738A>T, XP_011531117.1:p.Glu246Asp, XP_011531119.1:p.Glu205Asp, NP_001009565.1:p.Glu246Asp, XP_016859471.1:p.Glu246Asp, XP_047300097.1:p.Glu246Asp, XP_047300098.1:p.Glu246Asp, NP_001384829.1:p.Glu246Asp, NP_001333840.1:p.Glu246Asp

Select item 145897651615.

rs1458976516 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:39229465 (GRCh38)
2:39456606 (GRCh37)
Canonical SPDI:: NC_000002.12:39229464:T:C
Gene:: CDKL4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39229465T>C, NC_000002.11:g.39456606T>C, XM_011532815.4:c.68A>G, XM_011532815.3:c.68A>G, XM_011532815.2:c.68A>G, XM_011532815.1:c.68A>G, XM_011532817.3:c.68A>G, XM_011532817.2:c.68A>G, XM_011532817.1:c.68A>G, XM_011532819.3:c.68A>G, XM_011532819.2:c.68A>G, XM_011532819.1:c.68A>G, XM_017003985.2:c.68A>G, XM_017003985.1:c.68A>G, XR_001738736.2:n.1789A>G, XR_001738736.1:n.1484A>G, XM_017003984.2:c.68A>G, XM_017003984.1:c.68A>G, NM_001009565.2:c.68A>G, NM_001009565.1:c.68A>G, XM_017003982.2:c.68A>G, XM_017003982.1:c.68A>G, XM_047444141.1:c.68A>G, NR_144521.1:n.237A>G, NR_144520.1:n.124A>G, XM_047444142.1:c.68A>G, NM_001397900.1:c.68A>G, NM_001346911.1:c.68A>G, XR_007073748.1:n.224A>G, XP_011531117.1:p.Asn23Ser, XP_011531119.1:p.Asn23Ser, XP_011531121.1:p.Asn23Ser, XP_016859474.1:p.Asn23Ser, XP_016859473.1:p.Asn23Ser, NP_001009565.1:p.Asn23Ser, XP_016859471.1:p.Asn23Ser, XP_047300097.1:p.Asn23Ser, XP_047300098.1:p.Asn23Ser, NP_001384829.1:p.Asn23Ser, NP_001333840.1:p.Asn23Ser

Select item 145863792316.

rs1458637923 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:39213409 (GRCh38)
2:39440550 (GRCh37)
Canonical SPDI:: NC_000002.12:39213408:A:G
Gene:: CDKL4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000024/6 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39213409A>G, NC_000002.11:g.39440550A>G, XM_011532815.4:c.354T>C, XM_011532815.3:c.354T>C, XM_011532815.2:c.354T>C, XM_011532815.1:c.354T>C, XM_011532817.3:c.354T>C, XM_011532817.2:c.354T>C, XM_011532817.1:c.354T>C, XM_011532819.3:c.354T>C, XM_011532819.2:c.354T>C, XM_011532819.1:c.354T>C, XM_017003985.2:c.354T>C, XM_017003985.1:c.354T>C, XR_001738736.2:n.2075T>C, XR_001738736.1:n.1770T>C, XM_017003984.2:c.354T>C, XM_017003984.1:c.354T>C, NM_001009565.2:c.354T>C, NM_001009565.1:c.354T>C, XM_017003982.2:c.354T>C, XM_017003982.1:c.354T>C, XM_047444141.1:c.354T>C, NR_144521.1:n.523T>C, NR_144520.1:n.410T>C, XM_047444142.1:c.354T>C, NM_001397900.1:c.354T>C, NM_001346911.1:c.354T>C, XR_007073748.1:n.510T>C

Select item 145749816017.

rs1457498160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:39229403 (GRCh38)
2:39456544 (GRCh37)
Canonical SPDI:: NC_000002.12:39229402:C:T
Gene:: CDKL4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.39229403C>T, NC_000002.11:g.39456544C>T, XM_011532815.4:c.130G>A, XM_011532815.3:c.130G>A, XM_011532815.2:c.130G>A, XM_011532815.1:c.130G>A, XM_011532817.3:c.130G>A, XM_011532817.2:c.130G>A, XM_011532817.1:c.130G>A, XM_011532819.3:c.130G>A, XM_011532819.2:c.130G>A, XM_011532819.1:c.130G>A, XM_017003985.2:c.130G>A, XM_017003985.1:c.130G>A, XR_001738736.2:n.1851G>A, XR_001738736.1:n.1546G>A, XM_017003984.2:c.130G>A, XM_017003984.1:c.130G>A, NM_001009565.2:c.130G>A, NM_001009565.1:c.130G>A, XM_017003982.2:c.130G>A, XM_017003982.1:c.130G>A, XM_047444141.1:c.130G>A, NR_144521.1:n.299G>A, NR_144520.1:n.186G>A, XM_047444142.1:c.130G>A, NM_001397900.1:c.130G>A, NM_001346911.1:c.130G>A, XR_007073748.1:n.286G>A, XP_011531117.1:p.Val44Ile, XP_011531119.1:p.Val44Ile, XP_011531121.1:p.Val44Ile, XP_016859474.1:p.Val44Ile, XP_016859473.1:p.Val44Ile, NP_001009565.1:p.Val44Ile, XP_016859471.1:p.Val44Ile, XP_047300097.1:p.Val44Ile, XP_047300098.1:p.Val44Ile, NP_001384829.1:p.Val44Ile, NP_001333840.1:p.Val44Ile

Select item 145481213618.

rs1454812136 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:39179257 (GRCh38)
2:39406398 (GRCh37)
Canonical SPDI:: NC_000002.12:39179256:A:G
Gene:: CDKL4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39179257A>G, NC_000002.11:g.39406398A>G, XM_011532815.4:c.857T>C, XM_011532815.3:c.857T>C, XM_011532815.2:c.857T>C, XM_011532815.1:c.857T>C, XM_011532817.3:c.734T>C, XM_011532817.2:c.734T>C, XM_011532817.1:c.734T>C, NM_001009565.2:c.857T>C, NM_001009565.1:c.857T>C, XM_017003982.2:c.857T>C, XM_017003982.1:c.857T>C, XM_047444141.1:c.857T>C, NR_144521.1:n.1135T>C, NR_144520.1:n.1022T>C, XM_047444142.1:c.857T>C, NM_001397900.1:c.857T>C, NM_001346911.1:c.857T>C, XP_011531117.1:p.Phe286Ser, XP_011531119.1:p.Phe245Ser, NP_001009565.1:p.Phe286Ser, XP_016859471.1:p.Phe286Ser, XP_047300097.1:p.Phe286Ser, XP_047300098.1:p.Phe286Ser, NP_001384829.1:p.Phe286Ser, NP_001333840.1:p.Phe286Ser

Select item 145157364519.

rs1451573645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:39178585 (GRCh38)
2:39405726 (GRCh37)
Canonical SPDI:: NC_000002.12:39178584:G:C
Gene:: CDKL4 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.39178585G>C, NC_000002.11:g.39405726G>C, XM_011532815.4:c.1102C>G, XM_011532815.3:c.1102C>G, XM_011532815.2:c.1102C>G, XM_011532815.1:c.1102C>G, NM_001009565.2:c.*581C>G, NM_001009565.1:c.*581C>G, NR_144520.1:n.1694C>G, XM_047444142.1:c.*581C>G, NM_001346911.1:c.1102C>G, XP_011531117.1:p.Leu368Val, NP_001333840.1:p.Leu368Val

Select item 144738448420.

rs1447384484 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:39184601 (GRCh38)
2:39411742 (GRCh37)
Canonical SPDI:: NC_000002.12:39184600:T:A
Gene:: CDKL4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.39184601T>A, NC_000002.11:g.39411742T>A, XM_011532815.4:c.782A>T, XM_011532815.3:c.782A>T, XM_011532815.2:c.782A>T, XM_011532815.1:c.782A>T, XM_011532817.3:c.659A>T, XM_011532817.2:c.659A>T, XM_011532817.1:c.659A>T, NM_001009565.2:c.782A>T, NM_001009565.1:c.782A>T, XM_017003982.2:c.782A>T, XM_017003982.1:c.782A>T, XM_047444141.1:c.782A>T, NR_144521.1:n.1060A>T, NR_144520.1:n.947A>T, XM_047444142.1:c.782A>T, NM_001397900.1:c.782A>T, NM_001346911.1:c.782A>T, XP_011531117.1:p.Asn261Ile, XP_011531119.1:p.Asn220Ile, NP_001009565.1:p.Asn261Ile, XP_016859471.1:p.Asn261Ile, XP_047300097.1:p.Asn261Ile, XP_047300098.1:p.Asn261Ile, NP_001384829.1:p.Asn261Ile, NP_001333840.1:p.Asn261Ile

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