Full data view for gene ARHGAP1

Information The variants shown are described using the NM_004308.3 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-5130G>T r.(?) p.(=) Unknown - VUS g.46727181C>A g.46705631C>A ZNF408(NM_024741.3):c.1931C>A (p.A644D) - ZNF408_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5089C>T r.(?) p.(=) Unknown - likely benign g.46727140G>A - ZNF408(NM_024741.2):c.1890G>A (p.R630=), ZNF408(NM_024741.3):c.1890G>A (p.R630=) - ARHGAP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5089C>T r.(?) p.(=) Unknown - likely benign g.46727140G>A - ZNF408(NM_024741.2):c.1890G>A (p.R630=), ZNF408(NM_024741.3):c.1890G>A (p.R630=) - ARHGAP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5088C>G r.(?) p.(=) Unknown - VUS g.46727139G>C g.46705589G>C ZNF408(NM_024741.2):c.1889G>C (p.R630P) - ZNF408_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5088C>T r.(?) p.(=) Unknown - likely benign g.46727139G>A g.46705589G>A ZNF408(NM_024741.2):c.1889G>A (p.R630Q) - ARHGAP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4985G>A r.(?) p.(=) Unknown - VUS g.46727036C>T g.46705486C>T ZNF408(NM_024741.2):c.1786C>T (p.R596C), ZNF408(NM_024741.3):c.1786C>T (p.R596C) - ZNF408_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4985G>A r.(?) p.(=) Unknown - VUS g.46727036C>T g.46705486C>T ZNF408(NM_024741.2):c.1786C>T (p.R596C), ZNF408(NM_024741.3):c.1786C>T (p.R596C) - ZNF408_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4985G>A r.(?) p.(=) Unknown - VUS g.46727036C>T g.46705486C>T ZNF408(NM_024741.2):c.1786C>T (p.R596C), ZNF408(NM_024741.3):c.1786C>T (p.R596C) - ZNF408_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4985G>A r.(?) p.(=) Unknown - VUS g.46727036C>T - ZNF408(NM_024741.2):c.1786C>T (p.R596C), ZNF408(NM_024741.3):c.1786C>T (p.R596C) - ZNF408_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4954G>A r.(?) p.(=) Unknown - likely benign g.46727005C>T - ZNF408(NM_024741.2):c.1755C>T (p.G585=) - ARHGAP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4860G>A r.(?) p.(=) Unknown - VUS g.46726911C>T - ZNF408(NM_024741.2):c.1661C>T (p.P554L) - ARHGAP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4860G>A r.(?) p.(=) Unknown - likely benign g.46726911C>T - ZNF408(NM_024741.2):c.1661C>T (p.P554L) - ARHGAP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4843C>T r.(?) p.(=) Unknown - likely benign g.46726894G>A g.46705344G>A ZNF408(NM_001184751.2):c.1620G>A (p.G540=), ZNF408(NM_024741.2):c.1644G>A (p.G548=) - ARHGAP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4843C>T r.(?) p.(=) Unknown - likely benign g.46726894G>A - ZNF408(NM_001184751.2):c.1620G>A (p.G540=), ZNF408(NM_024741.2):c.1644G>A (p.G548=) - ARHGAP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4772G>A r.(?) p.(=) Unknown - VUS g.46726823C>T g.46705273C>T ZNF408(NM_024741.3):c.1573C>T (p.R525C) - ZNF408_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4733G>A r.(?) p.(=) Unknown - VUS g.46726784C>T g.46705234C>T ZNF408(NM_024741.2):c.1534C>T (p.R512C) - ARHGAP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4696C>T r.(?) p.(=) Unknown - benign g.46726747G>A g.46705197G>A ZNF408(NM_024741.2):c.1497G>A (p.P499=), ZNF408(NM_024741.3):c.1497G>A (p.P499=) - ZNF408_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4696C>T r.(?) p.(=) Unknown - likely benign g.46726747G>A g.46705197G>A ZNF408(NM_024741.2):c.1497G>A (p.P499=), ZNF408(NM_024741.3):c.1497G>A (p.P499=) - ZNF408_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4610G>T r.(?) p.(=) Unknown - VUS g.46726661C>A - ZNF408(NM_024741.2):c.1411C>A (p.P471T) - ARHGAP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4562G>A r.(?) p.(=) Unknown - VUS g.46726613C>T - - - ZNF408_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4544G>A r.(?) p.(=) Unknown - VUS g.46726595C>T - ZNF408(NM_001184751.1):c.1321C>T (p.(Gln441*)) - ARHGAP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4503C>T r.(?) p.(=) Unknown - VUS g.46726554G>A - ZNF408(NM_024741.2):c.1304G>A (p.R435Q), ZNF408(NM_024741.3):c.1304G>A (p.(Arg435Gln)) - ZNF408_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4503C>T r.(?) p.(=) Unknown - VUS g.46726554G>A - ZNF408(NM_024741.2):c.1304G>A (p.R435Q), ZNF408(NM_024741.3):c.1304G>A (p.(Arg435Gln)) - ZNF408_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4338G>A r.(?) p.(=) Unknown - VUS g.46726389C>T - - - ARHGAP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4313C>T r.(?) p.(=) Unknown - VUS g.46726364G>A g.46704814G>A ZNF408(NM_024741.3):c.1114G>A (p.A372T) - ARHGAP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4292G>A r.(?) p.(=) Unknown - likely benign g.46726343C>T - ZNF408(NM_024741.3):c.1093C>T (p.L365=) - ARHGAP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4260C>T r.(?) p.(=) Unknown - VUS g.46726311G>A g.46704761G>A ZNF408(NM_024741.3):c.1061G>A (p.R354Q) - ARHGAP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4253G>A r.(?) p.(=) Unknown - VUS g.46726304C>T - - - ZNF408_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4209C>G r.(?) p.(=) Unknown - benign g.46726260G>C g.46704710G>C ZNF408(NM_024741.3):c.1010G>C (p.R337P) - ZNF408_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4206G>A r.(?) p.(=) Unknown - VUS g.46726257C>T g.46704707C>T ZNF408(NM_024741.2):c.1007C>T (p.S336L) - ZNF408_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4102C>A r.(?) p.(=) Unknown - benign g.46726153G>T g.46704603G>T ZNF408(NM_024741.2):c.903G>T (p.P301=), ZNF408(NM_024741.3):c.903G>T (p.P301=) - ARHGAP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4102C>A r.(?) p.(=) Unknown - likely benign g.46726153G>T - ZNF408(NM_024741.2):c.903G>T (p.P301=), ZNF408(NM_024741.3):c.903G>T (p.P301=) - ARHGAP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3925C>T r.(?) p.(=) Unknown - likely benign g.46725976G>A - ZNF408(NM_001184751.2):c.702G>A (p.Q234=) - ARHGAP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3895C>T r.(?) p.(=) Unknown - likely benign g.46725946G>A g.46704396G>A ZNF408(NM_024741.3):c.696G>A (p.M232I) - ARHGAP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3888T>C r.(?) p.(=) Unknown - VUS g.46725939A>G g.46704389A>G ZNF408(NM_024741.2):c.689A>G (p.E230G) - ARHGAP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3842A>C r.(?) p.(=) Unknown - likely benign g.46725893T>G g.46704343T>G ZNF408(NM_024741.3):c.653-10T>G - ZNF408_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3836G>T r.(?) p.(=) Unknown - benign g.46725887C>A g.46704337C>A ZNF408(NM_024741.3):c.653-16C>A - ZNF408_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3834G>A r.(?) p.(=) Unknown - benign g.46725885C>T g.46704335C>T ZNF408(NM_024741.3):c.653-18C>T - ARHGAP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2677_-2666del r.(?) p.(=) Unknown - benign g.46724722_46724733del g.46703172_46703183del - - ZNF408_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2592G>A r.(?) p.(=) Unknown - likely benign g.46724643C>T g.46703093C>T ZNF408(NM_024741.3):c.502C>T (p.L168=) - ARHGAP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2547G>A r.(?) p.(=) Unknown - VUS g.46724598C>T g.46703048C>T ZNF408(NM_024741.2):c.457C>T (p.L153F) - ZNF408_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2486C>T r.(?) p.(=) Unknown - likely benign g.46724537G>A - ZNF408(NM_024741.2):c.396G>A (p.L132=) - ARHGAP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2263T>G r.(?) p.(=) Unknown - VUS g.46724314A>C - ZNF408(NM_024741.2):c.391A>C (p.S131R) - ARHGAP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2205G>C r.(?) p.(=) Unknown - VUS g.46724256C>G - ZNF408(NM_024741.2):c.333C>G (p.N111K) - ARHGAP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1121T>C r.(?) p.(=) Unknown - likely benign g.46723172A>G - ZNF408(NM_001184751.2):c.252A>G (p.E84=) - ARHGAP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1085G>A r.(?) p.(=) Unknown - likely benign g.46723136C>T g.46701586C>T ZNF408(NM_024741.3):c.240C>T (p.D80=) - ZNF408_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1044G>C r.(?) p.(=) Unknown - benign g.46723095C>G g.46701545C>G ZNF408(NM_024741.3):c.199C>G (p.L67V) - ZNF408_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-971G>C r.(?) p.(=) Unknown - likely benign g.46723022C>G g.46701472C>G ZNF408(NM_001184751.1):c.102C>G (p.(Asp34Glu)) - ARHGAP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-894C>T r.(?) p.(=) Unknown - likely benign g.46722945G>A g.46701395G>A ZNF408(NM_024741.2):c.53-4G>A - ZNF408_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-634C>G r.(?) p.(=) Unknown - benign g.46722685G>C g.46701135G>C ZNF408(NM_001184751.1):c.22G>C (p.G8R, p.(Gly8Arg)), ZNF408(NM_001184751.2):c.22G>C (p.G8R) - ZNF408_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-634C>G r.(?) p.(=) Unknown - likely benign g.46722685G>C g.46701135G>C ZNF408(NM_001184751.1):c.22G>C (p.G8R, p.(Gly8Arg)), ZNF408(NM_001184751.2):c.22G>C (p.G8R) - ZNF408_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-634C>G r.(?) p.(=) Unknown - likely benign g.46722685G>C g.46701135G>C ZNF408(NM_001184751.1):c.22G>C (p.G8R, p.(Gly8Arg)), ZNF408(NM_001184751.2):c.22G>C (p.G8R) - ZNF408_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-581T>C r.(?) p.(=) Unknown - likely benign g.46722632A>G g.46701082A>G ZNF408(NM_024741.3):c.35A>G (p.K12R) - ZNF408_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-576C>G r.(?) p.(=) Unknown - likely benign g.46722627G>C g.46701077G>C ZNF408(NM_024741.2):c.30G>C (p.E10D) - ARHGAP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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