Variant #0000574446 (NC_000023.10:g.153176377T>C, ARHGAP4(NM_001666.4):c.1680A>G)

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.153176377T>C
DNA change (hg38) g.153910923T>C
Published as ARHGAP4(NM_001164741.1):c.1800A>G (p.R600=)
ISCN -
DB-ID ARHGAP4_000069
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) 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.*4195T>C r.(=) p.(=)
ARHGAP4 NM_001666.4 -/. - c.1680A>G r.(?) p.(Arg560=)