Variant #0000261651 (NC_000023.10:g.74291377T>C, ABCB7(NM_004299.4):c.1177A>G)

Chromosome X
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.74291377T>C
DNA change (hg38) g.75071542T>C
Published as ABCB7(NM_001271696.1):c.1174A>G (p.(Ile392Val)), ABCB7(NM_004299.6):c.1177A>G (p.I393V)
ISCN -
DB-ID ABCB7_000012 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) 0.00045 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 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2019-12-04 15:24:38 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB7 NM_004299.4 -?/. - c.1177A>G r.(?) p.(Ile393Val)