Variant #0000605724 (NC_000001.10:g.35227241G>A, NM_153212.2:c.386G>A (GJB4))

Chromosome 1
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.35227241G>A
DNA change (hg38) g.34761640G>A
Published as GJB4(NM_153212.3):c.386G>A (p.W129*)
ISCN -
DB-ID GJB4_000019
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) 0.00023 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-12-04 14:54:23 +01:00 (CET)
Date last edited 2021-02-08 18:36:18 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJB5 NM_005268.2 ?/. - c.*3488G>A r.(=) p.(=)
GJB4 NM_153212.2 ?/. - c.386G>A r.(?) p.(Trp129Ter)


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