Variant #0000574447 (NC_000023.10:g.153176601G>A, ARHGAP4(NM_001666.4):c.1585C>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.153176601G>A
DNA change (hg38) g.153911147G>A
Published as ARHGAP4(NM_001164741.1):c.1705C>T (p.R569C)
ISCN -
DB-ID ARHGAP4_000070
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AVPR2 NM_000054.4 ?/. - c.*4419G>A r.(=) p.(=)
ARHGAP4 NM_001666.4 ?/. - c.1585C>T r.(?) p.(Arg529Cys)