Variant #0000262872 (NC_000023.10:g.153173413C>T, ARHGAP4(NM_001666.4):c.2611G>A)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.153173413C>T
DNA change (hg38) g.153907959C>T
Published as ARHGAP4(NM_001164741.1):c.2731G>A (p.V911M)
ISCN -
DB-ID ARHGAP4_000020
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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.*1231C>T r.(=) p.(=)
ARHGAP4 NM_001666.4 ?/. - c.2611G>A r.(?) p.(Val871Met)