Variant #0000262873 (NC_000023.10:g.153186874G>A, ARHGAP4(NM_001666.4):c.379C>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.153186874G>A
DNA change (hg38) g.153921421G>A
Published as ARHGAP4(NM_001164741.1):c.379C>T (p.P127S)
ISCN -
DB-ID ARHGAP4_000039
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) 5.0E-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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARHGAP4 NM_001666.4 ?/. - c.379C>T r.(?) p.(Pro127Ser)