Variant #0000659166 (NC_000023.10:g.153175788G>A, ARHGAP4(NM_001666.4):c.1993C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.153175788G>A
DNA change (hg38) g.153910334G>A
Published as ARHGAP4(NM_001164741.1):c.2113C>T (p.L705=)
ISCN -
DB-ID ARHGAP4_000090
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AVPR2 NM_000054.4 -?/. - c.*3606G>A r.(=) p.(=)
ARHGAP4 NM_001666.4 -?/. - c.1993C>T r.(?) p.(Leu665=)