Variant #0000531601 (NC_000007.13:g.20685410G>C, ABCB5(NM_178559.5):c.-2102G>C)

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.20685410G>C
DNA change (hg38) g.20645787G>C
Published as ABCB5(NM_001163941.1):c.710G>C (p.S237T)
ISCN -
DB-ID ABCB5_000001
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) 1.0E-5 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.-2102G>C r.(?) p.(=)