Variant #0000675829 (NC_000001.10:g.35227333C>T, NM_153212.2:c.478C>T (GJB4))

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.35227333C>T
DNA change (hg38) -
Published as GJB4(NM_153212.3):c.478C>T (p.R160C)
ISCN -
DB-ID GJB4_000021
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) 7.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2020-08-06 14:59:34 +02:00 (CEST)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJB5 NM_005268.2 -?/. - c.*3580C>T r.(=) p.(=)
GJB4 NM_153212.2 -?/. - c.478C>T r.(?) p.(Arg160Cys)


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