Variant #0000250909 (NC_000023.10:g.153171993A>G, ARHGAP4(NM_001666.4):c.*1190T>C)

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.153171993A>G
DNA change (hg38) g.153906539A>G
Published as AVPR2(NM_000054.6):c.927A>G (p.L309=), AVPR2(NM_000054.7):c.927A>G (p.L309=)
ISCN -
DB-ID AVPR2_000015 See all 2 reported entries
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) 0.47265 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AVPR2 NM_000054.4 -/. - c.927A>G r.(?) p.(Leu309=)
ARHGAP4 NM_001666.4 -/. - c.*1190T>C r.(=) p.(=)