Variant #0000574439 (NC_000023.10:g.153175745C>T, ARHGAP4(NM_001666.4):c.2036G>A)

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.153175745C>T
DNA change (hg38) g.153910291C>T
Published as ARHGAP4(NM_001164741.1):c.2156G>A (p.R719Q)
ISCN -
DB-ID ARHGAP4_000063
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) 0.00108 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     
AVPR2 NM_000054.4 -/. - c.*3563C>T r.(=) p.(=)
ARHGAP4 NM_001666.4 -/. - c.2036G>A r.(?) p.(Arg679Gln)