SNP Links for Protein (Select 116292162) - SNP

Links from Protein

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Select item 14907550711.

rs1490755071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:110544 (GRCh38)
16:160542 (GRCh37)
Canonical SPDI:: NC_000016.10:110543:G:A,NC_000016.10:110543:G:T
Gene:: NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.110544G>A, NC_000016.10:g.110544G>T, NC_000016.9:g.160542G>A, NC_000016.9:g.160542G>T, NG_029669.2:g.33129C>T, NG_029669.2:g.33129C>A, NG_029669.1:g.33156C>T, NG_029669.1:g.33156C>A, NM_001039476.3:c.73C>T, NM_001039476.3:c.73C>A, NM_001039476.2:c.73C>T, NM_001039476.2:c.73C>A, NM_001077350.3:c.610C>T, NM_001077350.3:c.610C>A, NM_001077350.2:c.610C>T, NM_001077350.2:c.610C>A, NM_001243249.2:c.535C>T, NM_001243249.2:c.535C>A, NM_001243249.1:c.535C>T, NM_001243249.1:c.535C>A, NM_001243248.2:c.535C>T, NM_001243248.2:c.535C>A, NM_001243248.1:c.535C>T, NM_001243248.1:c.535C>A, NM_001243247.2:c.376C>T, NM_001243247.2:c.376C>A, NM_001243247.1:c.376C>T, NM_001243247.1:c.376C>A, NG_042799.1:g.22837G>A, NG_042799.1:g.22837G>T, NM_012075.1:c.610C>T, NM_012075.1:c.610C>A, NP_001034565.1:p.Leu25Phe, NP_001034565.1:p.Leu25Ile, NP_001070818.1:p.Leu204Phe, NP_001070818.1:p.Leu204Ile, NP_001230178.1:p.Leu179Phe, NP_001230178.1:p.Leu179Ile, NP_001230177.1:p.Leu179Phe, NP_001230177.1:p.Leu179Ile, NP_001230176.1:p.Leu126Phe, NP_001230176.1:p.Leu126Ile

Select item 14871837682.

rs1487183768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:92692 (GRCh38)
16:142690 (GRCh37)
Canonical SPDI:: NC_000016.10:92691:C:G
Gene:: NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.92692C>G, NC_000016.9:g.142690C>G, NG_029669.2:g.50981G>C, NG_029669.1:g.51008G>C, NM_001039476.3:c.528G>C, NM_001039476.2:c.528G>C, NM_001077350.3:c.1065G>C, NM_001077350.2:c.1065G>C, NM_001243249.2:c.990G>C, NM_001243249.1:c.990G>C, NM_001243248.2:c.990G>C, NM_001243248.1:c.990G>C, NM_001243247.2:c.831G>C, NM_001243247.1:c.831G>C, NG_042799.1:g.4985C>G, NM_012075.1:c.1065G>C, NP_001034565.1:p.Gln176His, NP_001070818.1:p.Gln355His, NP_001230178.1:p.Gln330His, NP_001230177.1:p.Gln330His, NP_001230176.1:p.Gln277His

Select item 14851798483.

rs1485179848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89733 (GRCh38)
16:139731 (GRCh37)
Canonical SPDI:: NC_000016.10:89732:G:A
Gene:: NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.89733G>A, NC_000016.9:g.139731G>A, NG_029669.2:g.53940C>T, NG_029669.1:g.53967C>T, NM_001039476.3:c.794C>T, NM_001039476.2:c.794C>T, NM_001077350.3:c.1331C>T, NM_001077350.2:c.1331C>T, NM_001243249.2:c.1256C>T, NM_001243249.1:c.1256C>T, NM_001243248.2:c.1256C>T, NM_001243248.1:c.1256C>T, NM_001243247.2:c.1097C>T, NM_001243247.1:c.1097C>T, NG_042799.1:g.2026G>A, NM_012075.1:c.1331C>T, NP_001034565.1:p.Ala265Val, NP_001070818.1:p.Ala444Val, NP_001230178.1:p.Ala419Val, NP_001230177.1:p.Ala419Val, NP_001230176.1:p.Ala366Val

Select item 14849893394.

rs1484989339 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:88803 (GRCh38)
16:138801 (GRCh37)
Canonical SPDI:: NC_000016.10:88802:T:C
Gene:: NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.88803T>C, NC_000016.9:g.138801T>C, NG_029669.2:g.54870A>G, NG_029669.1:g.54897A>G, NM_001039476.3:c.902A>G, NM_001039476.2:c.902A>G, NM_001077350.3:c.1439A>G, NM_001077350.2:c.1439A>G, NM_001243249.2:c.1364A>G, NM_001243249.1:c.1364A>G, NM_001243248.2:c.1364A>G, NM_001243248.1:c.1364A>G, NM_001243247.2:c.1205A>G, NM_001243247.1:c.1205A>G, NG_042799.1:g.1096T>C, NM_012075.1:c.1439A>G, NP_001034565.1:p.Gln301Arg, NP_001070818.1:p.Gln480Arg, NP_001230178.1:p.Gln455Arg, NP_001230177.1:p.Gln455Arg, NP_001230176.1:p.Gln402Arg

Select item 14836431815.

rs1483643181 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:88744 (GRCh38)
16:138743 (GRCh37)
Canonical SPDI:: NC_000016.10:88743:T:G
Gene:: NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.88744T>G, NC_000016.9:g.138743T>G, NG_029669.2:g.54929A>C, NG_029669.1:g.54956A>C, NM_001039476.3:c.961A>C, NM_001039476.2:c.961A>C, NM_001077350.3:c.1498A>C, NM_001077350.2:c.1498A>C, NM_001243249.2:c.1423A>C, NM_001243249.1:c.1423A>C, NM_001243248.2:c.1423A>C, NM_001243248.1:c.1423A>C, NM_001243247.2:c.1264A>C, NM_001243247.1:c.1264A>C, NG_042799.1:g.1037T>G, NM_012075.1:c.1498A>C, NP_001034565.1:p.Ser321Arg, NP_001070818.1:p.Ser500Arg, NP_001230178.1:p.Ser475Arg, NP_001230177.1:p.Ser475Arg, NP_001230176.1:p.Ser422Arg

Select item 14828149566.

rs1482814956 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:117304 (GRCh38)
16:167303 (GRCh37)
Canonical SPDI:: NC_000016.10:117303:C:G
Gene:: NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.117304C>G, NC_000016.9:g.167303C>G, NG_029669.2:g.26369G>C, NG_029669.1:g.26395G>C, NM_001077350.3:c.390G>C, NM_001077350.2:c.390G>C, NM_001243247.2:c.156G>C, NM_001243247.1:c.156G>C, NG_042799.1:g.29597C>G, NM_012075.1:c.390G>C

Select item 14783589687.

rs1478358968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:138259 (GRCh38)
16:188258 (GRCh37)
Canonical SPDI:: NC_000016.10:138258:G:C
Gene:: NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.138259G>C, NC_000016.9:g.188258G>C, NG_029669.2:g.5414C>G, NG_029669.1:g.5440C>G, NM_001039476.3:c.-324C>G, NM_001039476.2:c.-324C>G, NM_001077350.3:c.9C>G, NM_001077350.2:c.9C>G, NM_001243249.2:c.9C>G, NM_001243249.1:c.9C>G, NM_001243248.2:c.9C>G, NM_001243248.1:c.9C>G, NM_001243247.2:c.-363C>G, NM_001243247.1:c.-363C>G, NG_042799.1:g.50552G>C, NM_012075.1:c.9C>G, NP_001070818.1:p.Asp3Glu, NP_001230178.1:p.Asp3Glu, NP_001230177.1:p.Asp3Glu

Select item 14740983668.

rs1474098366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:89768 (GRCh38)
16:139766 (GRCh37)
Canonical SPDI:: NC_000016.10:89767:G:A,NC_000016.10:89767:G:T
Gene:: NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000248/4 (TOMMO)
HGVS:: NC_000016.10:g.89768G>A, NC_000016.10:g.89768G>T, NC_000016.9:g.139766G>A, NC_000016.9:g.139766G>T, NG_029669.2:g.53905C>T, NG_029669.2:g.53905C>A, NG_029669.1:g.53932C>T, NG_029669.1:g.53932C>A, NM_001039476.3:c.759C>T, NM_001039476.3:c.759C>A, NM_001039476.2:c.759C>T, NM_001039476.2:c.759C>A, NM_001077350.3:c.1296C>T, NM_001077350.3:c.1296C>A, NM_001077350.2:c.1296C>T, NM_001077350.2:c.1296C>A, NM_001243249.2:c.1221C>T, NM_001243249.2:c.1221C>A, NM_001243249.1:c.1221C>T, NM_001243249.1:c.1221C>A, NM_001243248.2:c.1221C>T, NM_001243248.2:c.1221C>A, NM_001243248.1:c.1221C>T, NM_001243248.1:c.1221C>A, NM_001243247.2:c.1062C>T, NM_001243247.2:c.1062C>A, NM_001243247.1:c.1062C>T, NM_001243247.1:c.1062C>A, NG_042799.1:g.2061G>A, NG_042799.1:g.2061G>T, NM_012075.1:c.1296C>T, NM_012075.1:c.1296C>A

Select item 14726930529.

rs1472693052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:93304 (GRCh38)
16:143302 (GRCh37)
Canonical SPDI:: NC_000016.10:93303:G:A
Gene:: NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.93304G>A, NC_000016.9:g.143302G>A, NG_029669.2:g.50369C>T, NG_029669.1:g.50396C>T, NM_001039476.3:c.409C>T, NM_001039476.2:c.409C>T, NM_001077350.3:c.946C>T, NM_001077350.2:c.946C>T, NM_001243249.2:c.871C>T, NM_001243249.1:c.871C>T, NM_001243248.2:c.871C>T, NM_001243248.1:c.871C>T, NM_001243247.2:c.712C>T, NM_001243247.1:c.712C>T, NG_042799.1:g.5597G>A, NM_012075.1:c.946C>T

Select item 147117214710.

rs1471172147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:100509 (GRCh38)
16:150507 (GRCh37)
Canonical SPDI:: NC_000016.10:100508:G:A
Gene:: NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.100509G>A, NC_000016.9:g.150507G>A, NG_029669.2:g.43164C>T, NG_029669.1:g.43191C>T, NM_001039476.3:c.93C>T, NM_001039476.2:c.93C>T, NM_001077350.3:c.630C>T, NM_001077350.2:c.630C>T, NM_001243249.2:c.555C>T, NM_001243249.1:c.555C>T, NM_001243248.2:c.555C>T, NM_001243248.1:c.555C>T, NM_001243247.2:c.396C>T, NM_001243247.1:c.396C>T, NG_042799.1:g.12802G>A, NM_012075.1:c.630C>T

Select item 147073201511.

rs1470732015 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 16:100453 (GRCh38)
16:150451 (GRCh37)
Canonical SPDI:: NC_000016.10:100450:AGAAG:AG
Gene:: NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.100453_100455del, NC_000016.9:g.150451_150453del, NG_029669.2:g.43220_43222del, NG_029669.1:g.43247_43249del, NM_001039476.3:c.149_151del, NM_001039476.2:c.149_151del, NM_001077350.3:c.686_688del, NM_001077350.2:c.686_688del, NM_001243249.2:c.611_613del, NM_001243249.1:c.611_613del, NM_001243248.2:c.611_613del, NM_001243248.1:c.611_613del, NM_001243247.2:c.452_454del, NM_001243247.1:c.452_454del, NG_042799.1:g.12746_12748del, NM_012075.1:c.686_688del, NP_001034565.1:p.Phe50del, NP_001070818.1:p.Phe229del, NP_001230178.1:p.Phe204del, NP_001230177.1:p.Phe204del, NP_001230176.1:p.Phe151del

Select item 147070832412.

rs1470708324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:112726 (GRCh38)
16:162725 (GRCh37)
Canonical SPDI:: NC_000016.10:112725:C:T
Gene:: NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000016.10:g.112726C>T, NC_000016.9:g.162725C>T, NG_029669.2:g.30947G>A, NG_029669.1:g.30973G>A, NM_001039476.3:c.-95G>A, NM_001039476.2:c.-95G>A, NM_001077350.3:c.443G>A, NM_001077350.2:c.443G>A, NM_001243249.2:c.368G>A, NM_001243249.1:c.368G>A, NM_001243248.2:c.368G>A, NM_001243248.1:c.368G>A, NM_001243247.2:c.209G>A, NM_001243247.1:c.209G>A, NG_042799.1:g.25019C>T, NM_012075.1:c.443G>A, NP_001070818.1:p.Arg148His, NP_001230178.1:p.Arg123His, NP_001230177.1:p.Arg123His, NP_001230176.1:p.Arg70His

Select item 147028596813.

rs1470285968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:112729 (GRCh38)
16:162728 (GRCh37)
Canonical SPDI:: NC_000016.10:112728:C:T
Gene:: NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.112729C>T, NC_000016.9:g.162728C>T, NG_029669.2:g.30944G>A, NG_029669.1:g.30970G>A, NM_001039476.3:c.-98G>A, NM_001039476.2:c.-98G>A, NM_001077350.3:c.440G>A, NM_001077350.2:c.440G>A, NM_001243249.2:c.365G>A, NM_001243249.1:c.365G>A, NM_001243248.2:c.365G>A, NM_001243248.1:c.365G>A, NM_001243247.2:c.206G>A, NM_001243247.1:c.206G>A, NG_042799.1:g.25022C>T, NM_012075.1:c.440G>A, NP_001070818.1:p.Arg147His, NP_001230178.1:p.Arg122His, NP_001230177.1:p.Arg122His, NP_001230176.1:p.Arg69His

Select item 146651044914.

rs1466510449 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:89815 (GRCh38)
16:139814 (GRCh37)
Canonical SPDI:: NC_000016.10:89815:GGG:GGGG
Gene:: NPRL3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0.000111/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.89818dup, NC_000016.9:g.139816dup, NG_029669.2:g.53857dup, NG_029669.1:g.53884dup, NM_001039476.3:c.711dup, NM_001039476.2:c.711dup, NM_001077350.3:c.1248dup, NM_001077350.2:c.1248dup, NM_001243249.2:c.1173dup, NM_001243249.1:c.1173dup, NM_001243248.2:c.1173dup, NM_001243248.1:c.1173dup, NM_001243247.2:c.1014dup, NM_001243247.1:c.1014dup, NG_042799.1:g.2111dup, NM_012075.1:c.1248dup, NP_001034565.1:p.Ser238fs, NP_001070818.1:p.Ser417fs, NP_001230178.1:p.Ser392fs, NP_001230177.1:p.Ser392fs, NP_001230176.1:p.Ser339fs

Select item 146217903815.

rs1462179038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:100446 (GRCh38)
16:150444 (GRCh37)
Canonical SPDI:: NC_000016.10:100445:C:T
Gene:: NPRL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.100446C>T, NC_000016.9:g.150444C>T, NG_029669.2:g.43227G>A, NG_029669.1:g.43254G>A, NM_001039476.3:c.156G>A, NM_001039476.2:c.156G>A, NM_001077350.3:c.693G>A, NM_001077350.2:c.693G>A, NM_001243249.2:c.618G>A, NM_001243249.1:c.618G>A, NM_001243248.2:c.618G>A, NM_001243248.1:c.618G>A, NM_001243247.2:c.459G>A, NM_001243247.1:c.459G>A, NG_042799.1:g.12739C>T, NM_012075.1:c.693G>A

Select item 145509385416.

rs1455093854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:100473 (GRCh38)
16:150471 (GRCh37)
Canonical SPDI:: NC_000016.10:100472:G:A
Gene:: NPRL3 (Varview)
Functional Consequence:: synonymous_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)
HGVS:: NC_000016.10:g.100473G>A, NC_000016.9:g.150471G>A, NG_029669.2:g.43200C>T, NG_029669.1:g.43227C>T, NM_001039476.3:c.129C>T, NM_001039476.2:c.129C>T, NM_001077350.3:c.666C>T, NM_001077350.2:c.666C>T, NM_001243249.2:c.591C>T, NM_001243249.1:c.591C>T, NM_001243248.2:c.591C>T, NM_001243248.1:c.591C>T, NM_001243247.2:c.432C>T, NM_001243247.1:c.432C>T, NG_042799.1:g.12766G>A, NM_012075.1:c.666C>T

Select item 145361910217.

rs1453619102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:138247 (GRCh38)
16:188246 (GRCh37)
Canonical SPDI:: NC_000016.10:138246:G:A
Gene:: NPRL3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.138247G>A, NC_000016.9:g.188246G>A, NG_029669.2:g.5426C>T, NG_029669.1:g.5452C>T, NM_001039476.3:c.-312C>T, NM_001039476.2:c.-312C>T, NM_001077350.3:c.21C>T, NM_001077350.2:c.21C>T, NM_001243249.2:c.21C>T, NM_001243249.1:c.21C>T, NM_001243248.2:c.21C>T, NM_001243248.1:c.21C>T, NM_001243247.2:c.-351C>T, NM_001243247.1:c.-351C>T, NG_042799.1:g.50540G>A, NM_012075.1:c.21C>T

Select item 145311843718.

rs1453118437 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 16:86826 (GRCh38)
16:136825 (GRCh37)
Canonical SPDI:: NC_000016.10:86825:A:G,NC_000016.10:86825:A:T
Gene:: NPRL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.86826A>G, NC_000016.10:g.86826A>T, NC_000016.9:g.136825A>G, NC_000016.9:g.136825A>T, NG_029669.2:g.56847T>C, NG_029669.2:g.56847T>A, NG_029669.1:g.56874T>C, NG_029669.1:g.56874T>A, NM_001039476.3:c.1052T>C, NM_001039476.3:c.1052T>A, NM_001039476.2:c.1052T>C, NM_001039476.2:c.1052T>A, NM_001077350.3:c.1589T>C, NM_001077350.3:c.1589T>A, NM_001077350.2:c.1589T>C, NM_001077350.2:c.1589T>A, NM_001243249.2:c.1514T>C, NM_001243249.2:c.1514T>A, NM_001243249.1:c.1514T>C, NM_001243249.1:c.1514T>A, NM_001243247.2:c.1355T>C, NM_001243247.2:c.1355T>A, NM_001243247.1:c.1355T>C, NM_001243247.1:c.1355T>A, NM_001243248.2:c.1514T>C, NM_001243248.2:c.1514T>A, NM_001243248.1:c.1514T>C, NM_001243248.1:c.1514T>A, NM_012075.1:c.1589T>C, NM_012075.1:c.1589T>A, NP_001034565.1:p.Met351Thr, NP_001034565.1:p.Met351Lys, NP_001070818.1:p.Met530Thr, NP_001070818.1:p.Met530Lys, NP_001230178.1:p.Met505Thr, NP_001230178.1:p.Met505Lys, NP_001230176.1:p.Met452Thr, NP_001230176.1:p.Met452Lys, NP_001230177.1:p.Met505Thr, NP_001230177.1:p.Met505Lys

Select item 145309538519.

rs1453095385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:86837 (GRCh38)
16:136836 (GRCh37)
Canonical SPDI:: NC_000016.10:86836:C:T
Gene:: NPRL3 (Varview)
Functional Consequence:: synonymous_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_000016.10:g.86837C>T, NC_000016.9:g.136836C>T, NG_029669.2:g.56836G>A, NG_029669.1:g.56863G>A, NM_001039476.3:c.1041G>A, NM_001039476.2:c.1041G>A, NM_001077350.3:c.1578G>A, NM_001077350.2:c.1578G>A, NM_001243249.2:c.1503G>A, NM_001243249.1:c.1503G>A, NM_001243247.2:c.1344G>A, NM_001243247.1:c.1344G>A, NM_001243248.2:c.1503G>A, NM_001243248.1:c.1503G>A, NM_012075.1:c.1578G>A

Select item 145272410320.

rs1452724103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:112627 (GRCh38)
16:162626 (GRCh37)
Canonical SPDI:: NC_000016.10:112626:G:A
Gene:: NPRL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.112627G>A, NC_000016.9:g.162626G>A, NG_029669.2:g.31046C>T, NG_029669.1:g.31072C>T, NM_001039476.3:c.5C>T, NM_001039476.2:c.5C>T, NM_001077350.3:c.542C>T, NM_001077350.2:c.542C>T, NM_001243249.2:c.467C>T, NM_001243249.1:c.467C>T, NM_001243248.2:c.467C>T, NM_001243248.1:c.467C>T, NM_001243247.2:c.308C>T, NM_001243247.1:c.308C>T, NG_042799.1:g.24920G>A, NM_012075.1:c.542C>T, NP_001034565.1:p.Ala2Val, NP_001070818.1:p.Ala181Val, NP_001230178.1:p.Ala156Val, NP_001230177.1:p.Ala156Val, NP_001230176.1:p.Ala103Val

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