Variant #0000336109 (NC_000023.10:g.153174922G>A, ARHGAP4(NM_001666.4):c.2482C>T)

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.153174922G>A
DNA change (hg38) g.153909468G>A
Published as ARHGAP4(NM_001164741.1):c.2602C>T (p.(Leu868Phe))
ISCN -
DB-ID ARHGAP4_000021
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AVPR2 NM_000054.4 ?/. - c.*2740G>A r.(=) p.(=)
ARHGAP4 NM_001666.4 ?/. - c.2482C>T r.(?) p.(Leu828Phe)