Variant #0000531602 (NC_000007.13:g.20685450G>A, ABCB5(NM_178559.5):c.-2062G>A)

Chromosome 7
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.20685450G>A
DNA change (hg38) g.20645827G>A
Published as ABCB5(NM_001163941.1):c.750G>A (p.L250=)
ISCN -
DB-ID ABCB5_000002
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) 0.00254 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     
ABCB5 NM_178559.5 -?/. - c.-2062G>A r.(?) p.(=)