SNP Links for Protein (Select 66346662) - SNP

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Links from Protein

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Select item 14909525951.

rs1490952595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:44849053 (GRCh38)
22:45244933 (GRCh37)
Canonical SPDI:: NC_000022.11:44849052:G:C
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000022.11:g.44849053G>C, NC_000022.10:g.45244933G>C, NG_046967.1:g.151856G>C, NM_181334.6:c.1263G>C, NM_181334.5:c.1263G>C, NM_181334.4:c.1236G>C, NM_181335.3:c.870G>C, NM_181335.2:c.870G>C, NM_001017526.2:c.963G>C, NM_001017526.1:c.963G>C, NM_001198726.2:c.870G>C, NM_001198726.1:c.870G>C

Select item 14876551392.

rs1487655139 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:44809097 (GRCh38)
22:45204977 (GRCh37)
Canonical SPDI:: NC_000022.11:44809096:A:G
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.44809097A>G, NC_000022.10:g.45204977A>G, NG_046967.1:g.111900A>G, NM_001017526.2:c.391A>G, NM_001017526.1:c.391A>G, NP_001017526.1:p.Arg131Gly

Select item 14864005743.

rs1486400574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:44802100 (GRCh38)
22:45197980 (GRCh37)
Canonical SPDI:: NC_000022.11:44802099:G:T
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000022.11:g.44802100G>T, NC_000022.10:g.45197980G>T, NG_046967.1:g.104903G>T, NM_181334.6:c.496G>T, NM_181334.5:c.496G>T, NM_181334.4:c.469G>T, NM_181335.3:c.103G>T, NM_181335.2:c.103G>T, NM_001017526.2:c.103G>T, NM_001017526.1:c.103G>T, NM_001198726.2:c.103G>T, NM_001198726.1:c.103G>T, NP_851851.3:p.Val166Phe, NP_851852.2:p.Val35Phe, NP_001017526.1:p.Val35Phe, NP_001185655.1:p.Val35Phe

Select item 14855970754.

rs1485597075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:44809063 (GRCh38)
22:45204943 (GRCh37)
Canonical SPDI:: NC_000022.11:44809062:C:G,NC_000022.11:44809062:C:T
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.44809063C>G, NC_000022.11:g.44809063C>T, NC_000022.10:g.45204943C>G, NC_000022.10:g.45204943C>T, NG_046967.1:g.111866C>G, NG_046967.1:g.111866C>T, NM_001017526.2:c.357C>G, NM_001017526.2:c.357C>T, NM_001017526.1:c.357C>G, NM_001017526.1:c.357C>T

Select item 14850638915.

rs1485063891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:44862474 (GRCh38)
22:45258354 (GRCh37)
Canonical SPDI:: NC_000022.11:44862473:C:T
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview), LOC105373062 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.44862474C>T, NC_000022.10:g.45258354C>T, NG_046967.1:g.165277C>T, NM_181334.6:c.1574C>T, NM_181334.5:c.1574C>T, NM_181334.4:c.1547C>T, NM_181335.3:c.1181C>T, NM_181335.2:c.1181C>T, NM_001017526.2:c.1274C>T, NM_001017526.1:c.1274C>T, NM_001198726.2:c.*159C>T, NM_001198726.1:c.*159C>T, NP_851851.3:p.Pro525Leu, NP_851852.2:p.Pro394Leu, NP_001017526.1:p.Pro425Leu

Select item 14846706916.

rs1484670691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:44848990 (GRCh38)
22:45244870 (GRCh37)
Canonical SPDI:: NC_000022.11:44848989:G:A,NC_000022.11:44848989:G:T
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.44848990G>A, NC_000022.11:g.44848990G>T, NC_000022.10:g.45244870G>A, NC_000022.10:g.45244870G>T, NG_046967.1:g.151793G>A, NG_046967.1:g.151793G>T, NM_181334.6:c.1200G>A, NM_181334.6:c.1200G>T, NM_181334.5:c.1200G>A, NM_181334.5:c.1200G>T, NM_181334.4:c.1173G>A, NM_181334.4:c.1173G>T, NM_181335.3:c.807G>A, NM_181335.3:c.807G>T, NM_181335.2:c.807G>A, NM_181335.2:c.807G>T, NM_001017526.2:c.900G>A, NM_001017526.2:c.900G>T, NM_001017526.1:c.900G>A, NM_001017526.1:c.900G>T, NM_001198726.2:c.807G>A, NM_001198726.2:c.807G>T, NM_001198726.1:c.807G>A, NM_001198726.1:c.807G>T, NP_851851.3:p.Lys400Asn, NP_851852.2:p.Lys269Asn, NP_001017526.1:p.Lys300Asn, NP_001185655.1:p.Lys269Asn

Select item 14789812257.

rs1478981225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 22:44862543 (GRCh38)
22:45258423 (GRCh37)
Canonical SPDI:: NC_000022.11:44862542:C:A,NC_000022.11:44862542:C:G,NC_000022.11:44862542:C:T
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview), LOC105373062 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.44862543C>A, NC_000022.11:g.44862543C>G, NC_000022.11:g.44862543C>T, NC_000022.10:g.45258423C>A, NC_000022.10:g.45258423C>G, NC_000022.10:g.45258423C>T, NG_046967.1:g.165346C>A, NG_046967.1:g.165346C>G, NG_046967.1:g.165346C>T, NM_181334.6:c.1643C>A, NM_181334.6:c.1643C>G, NM_181334.6:c.1643C>T, NM_181334.5:c.1643C>A, NM_181334.5:c.1643C>G, NM_181334.5:c.1643C>T, NM_181334.4:c.1616C>A, NM_181334.4:c.1616C>G, NM_181334.4:c.1616C>T, NM_181335.3:c.1250C>A, NM_181335.3:c.1250C>G, NM_181335.3:c.1250C>T, NM_181335.2:c.1250C>A, NM_181335.2:c.1250C>G, NM_181335.2:c.1250C>T, NM_001017526.2:c.1343C>A, NM_001017526.2:c.1343C>G, NM_001017526.2:c.1343C>T, NM_001017526.1:c.1343C>A, NM_001017526.1:c.1343C>G, NM_001017526.1:c.1343C>T, NM_001198726.2:c.*228C>A, NM_001198726.2:c.*228C>G, NM_001198726.2:c.*228C>T, NM_001198726.1:c.*228C>A, NM_001198726.1:c.*228C>G, NM_001198726.1:c.*228C>T, NP_851851.3:p.Thr548Asn, NP_851851.3:p.Thr548Ser, NP_851851.3:p.Thr548Ile, NP_851852.2:p.Thr417Asn, NP_851852.2:p.Thr417Ser, NP_851852.2:p.Thr417Ile, NP_001017526.1:p.Thr448Asn, NP_001017526.1:p.Thr448Ser, NP_001017526.1:p.Thr448Ile

Select item 14781533998.

rs1478153399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:44822381 (GRCh38)
22:45218261 (GRCh37)
Canonical SPDI:: NC_000022.11:44822380:G:C
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.44822381G>C, NC_000022.10:g.45218261G>C, NG_046967.1:g.125184G>C, NM_181334.6:c.790G>C, NM_181334.5:c.790G>C, NM_181334.4:c.763G>C, NM_181335.3:c.397G>C, NM_181335.2:c.397G>C, NM_001017526.2:c.490G>C, NM_001017526.1:c.490G>C, NM_001198726.2:c.397G>C, NM_001198726.1:c.397G>C, NP_851851.3:p.Gly264Arg, NP_851852.2:p.Gly133Arg, NP_001017526.1:p.Gly164Arg, NP_001185655.1:p.Gly133Arg

Select item 14774975379.

rs1477497537 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:44809008 (GRCh38)
22:45204888 (GRCh37)
Canonical SPDI:: NC_000022.11:44809007:A:T
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.44809008A>T, NC_000022.10:g.45204888A>T, NG_046967.1:g.111811A>T, NM_001017526.2:c.302A>T, NM_001017526.1:c.302A>T, NP_001017526.1:p.Asp101Val

Select item 147716333410.

rs1477163334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:44862355 (GRCh38)
22:45258235 (GRCh37)
Canonical SPDI:: NC_000022.11:44862354:C:G
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview), LOC105373062 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.44862355C>G, NC_000022.10:g.45258235C>G, NG_046967.1:g.165158C>G, NM_181334.6:c.1455C>G, NM_181334.5:c.1455C>G, NM_181334.4:c.1428C>G, NM_181335.3:c.1062C>G, NM_181335.2:c.1062C>G, NM_001017526.2:c.1155C>G, NM_001017526.1:c.1155C>G, NM_001198726.2:c.*40C>G, NM_001198726.1:c.*40C>G

Select item 147361538211.

rs1473615382 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:44814673 (GRCh38)
22:45210553 (GRCh37)
Canonical SPDI:: NC_000022.11:44814672:T:C
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.44814673T>C, NC_000022.10:g.45210553T>C, NG_046967.1:g.117476T>C, NM_181334.6:c.694T>C, NM_181334.5:c.694T>C, NM_181334.4:c.667T>C, NM_181335.3:c.301T>C, NM_181335.2:c.301T>C, NM_001017526.2:c.394T>C, NM_001017526.1:c.394T>C, NM_001198726.2:c.301T>C, NM_001198726.1:c.301T>C, NP_851851.3:p.Tyr232His, NP_851852.2:p.Tyr101His, NP_001017526.1:p.Tyr132His, NP_001185655.1:p.Tyr101His

Select item 147209731212.

rs1472097312 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:44848006 (GRCh38)
22:45243886 (GRCh37)
Canonical SPDI:: NC_000022.11:44848005:C:T
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.44848006C>T, NC_000022.10:g.45243886C>T, NG_046967.1:g.150809C>T, NM_181334.6:c.1097C>T, NM_181334.5:c.1097C>T, NM_181334.4:c.1070C>T, NM_181335.3:c.704C>T, NM_181335.2:c.704C>T, NM_001017526.2:c.797C>T, NM_001017526.1:c.797C>T, NM_001198726.2:c.704C>T, NM_001198726.1:c.704C>T, NP_851851.3:p.Ala366Val, NP_851852.2:p.Ala235Val, NP_001017526.1:p.Ala266Val, NP_001185655.1:p.Ala235Val

Select item 147108626413.

rs1471086264 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:44845279 (GRCh38)
22:45241159 (GRCh37)
Canonical SPDI:: NC_000022.11:44845278:A:G
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (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=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.44845279A>G, NC_000022.10:g.45241159A>G, NG_046967.1:g.148082A>G, NM_181334.6:c.1000A>G, NM_181334.5:c.1000A>G, NM_181334.4:c.973A>G, NM_181335.3:c.607A>G, NM_181335.2:c.607A>G, NM_001017526.2:c.700A>G, NM_001017526.1:c.700A>G, NM_001198726.2:c.607A>G, NM_001198726.1:c.607A>G, NP_851851.3:p.Lys334Glu, NP_851852.2:p.Lys203Glu, NP_001017526.1:p.Lys234Glu, NP_001185655.1:p.Lys203Glu

Select item 147000798014.

rs1470007980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 22:44848046 (GRCh38)
22:45243926 (GRCh37)
Canonical SPDI:: NC_000022.11:44848045:C:A,NC_000022.11:44848045:C:G
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.44848046C>A, NC_000022.11:g.44848046C>G, NC_000022.10:g.45243926C>A, NC_000022.10:g.45243926C>G, NG_046967.1:g.150849C>A, NG_046967.1:g.150849C>G, NM_181334.6:c.1137C>A, NM_181334.6:c.1137C>G, NM_181334.5:c.1137C>A, NM_181334.5:c.1137C>G, NM_181334.4:c.1110C>A, NM_181334.4:c.1110C>G, NM_181335.3:c.744C>A, NM_181335.3:c.744C>G, NM_181335.2:c.744C>A, NM_181335.2:c.744C>G, NM_001017526.2:c.837C>A, NM_001017526.2:c.837C>G, NM_001017526.1:c.837C>A, NM_001017526.1:c.837C>G, NM_001198726.2:c.744C>A, NM_001198726.2:c.744C>G, NM_001198726.1:c.744C>A, NM_001198726.1:c.744C>G, NP_851851.3:p.Asn379Lys, NP_851851.3:p.Asn379Lys, NP_851852.2:p.Asn248Lys, NP_851852.2:p.Asn248Lys, NP_001017526.1:p.Asn279Lys, NP_001017526.1:p.Asn279Lys, NP_001185655.1:p.Asn248Lys, NP_001185655.1:p.Asn248Lys

Select item 146354352215.

rs1463543522 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:44808320 (GRCh38)
22:45204200 (GRCh37)
Canonical SPDI:: NC_000022.11:44808319:A:G
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000094/2 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.44808320A>G, NC_000022.10:g.45204200A>G, NG_046967.1:g.111123A>G, NM_181334.6:c.574A>G, NM_181334.5:c.574A>G, NM_181334.4:c.547A>G, NM_181335.3:c.181A>G, NM_181335.2:c.181A>G, NM_001017526.2:c.181A>G, NM_001017526.1:c.181A>G, NM_001198726.2:c.181A>G, NM_001198726.1:c.181A>G, NP_851851.3:p.Thr192Ala, NP_851852.2:p.Thr61Ala, NP_001017526.1:p.Thr61Ala, NP_001185655.1:p.Thr61Ala

Select item 146165371816.

rs1461653718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:44822391 (GRCh38)
22:45218271 (GRCh37)
Canonical SPDI:: NC_000022.11:44822390:T:C
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.44822391T>C, NC_000022.10:g.45218271T>C, NG_046967.1:g.125194T>C, NM_181334.6:c.800T>C, NM_181334.5:c.800T>C, NM_181334.4:c.773T>C, NM_181335.3:c.407T>C, NM_181335.2:c.407T>C, NM_001017526.2:c.500T>C, NM_001017526.1:c.500T>C, NM_001198726.2:c.407T>C, NM_001198726.1:c.407T>C, NP_851851.3:p.Val267Ala, NP_851852.2:p.Val136Ala, NP_001017526.1:p.Val167Ala, NP_001185655.1:p.Val136Ala

Select item 145848222517.

rs1458482225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:44822425 (GRCh38)
22:45218305 (GRCh37)
Canonical SPDI:: NC_000022.11:44822424:A:G
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.44822425A>G, NC_000022.10:g.45218305A>G, NG_046967.1:g.125228A>G, NM_181334.6:c.834A>G, NM_181334.5:c.834A>G, NM_181334.4:c.807A>G, NM_181335.3:c.441A>G, NM_181335.2:c.441A>G, NM_001017526.2:c.534A>G, NM_001017526.1:c.534A>G, NM_001198726.2:c.441A>G, NM_001198726.1:c.441A>G

Select item 145655944918.

rs1456559449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:44809018 (GRCh38)
22:45204898 (GRCh37)
Canonical SPDI:: NC_000022.11:44809017:C:G,NC_000022.11:44809017:C:T
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.44809018C>G, NC_000022.11:g.44809018C>T, NC_000022.10:g.45204898C>G, NC_000022.10:g.45204898C>T, NG_046967.1:g.111821C>G, NG_046967.1:g.111821C>T, NM_001017526.2:c.312C>G, NM_001017526.2:c.312C>T, NM_001017526.1:c.312C>G, NM_001017526.1:c.312C>T

Select item 145403441919.

rs1454034419 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:44862440 (GRCh38)
22:45258321 (GRCh37)
Canonical SPDI:: NC_000022.11:44862440:CCCC:CCCCC
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview), LOC105373062 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.44862444dup, NC_000022.10:g.45258324dup, NG_046967.1:g.165247dup, NM_181334.6:c.1544dup, NM_181334.5:c.1544dup, NM_181334.4:c.1517dup, NM_181335.3:c.1151dup, NM_181335.2:c.1151dup, NM_001017526.2:c.1244dup, NM_001017526.1:c.1244dup, NM_001198726.2:c.*129dup, NM_001198726.1:c.*129dup, NP_851851.3:p.Glu516fs, NP_851852.2:p.Glu385fs, NP_001017526.1:p.Glu416fs

Select item 145292141420.

rs1452921414 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACAAGCCACGG>- [Show Flanks]
Chromosome:: 22:44862524 (GRCh38)
22:45258404 (GRCh37)
Canonical SPDI:: NC_000022.11:44862516:GCCACGGACACAAGCCACGG:GCCACGG
Gene:: ARHGAP8 (Varview), PRR5-ARHGAP8 (Varview), LOC105373062 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCACGG=0.000071/1 (ALFA)
-=0.00002/5 (GnomAD_exomes)
-=0.000021/3 (GnomAD)
-=0.000042/11 (TOPMED)
HGVS:: NC_000022.11:g.44862524_44862536del, NC_000022.10:g.45258404_45258416del, NG_046967.1:g.165327_165339del, NM_181334.6:c.1624_1636del, NM_181334.5:c.1624_1636del, NM_181334.4:c.1597_1609del, NM_181335.3:c.1231_1243del, NM_181335.2:c.1231_1243del, NM_001017526.2:c.1324_1336del, NM_001017526.1:c.1324_1336del, NM_001198726.2:c.*209_*221del, NM_001198726.1:c.*209_*221del, NP_851851.3:p.Thr542fs, NP_851852.2:p.Thr411fs, NP_001017526.1:p.Thr442fs

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