Variant #0000607474 (NC_000002.11:g.215851290T>C, ABCA12(NM_173076.2):c.4139A>G)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.215851290T>C
DNA change (hg38) g.214986566T>C
Published as ABCA12(NM_173076.2):c.4139A>G (p.N1380S)
ISCN -
DB-ID ABCA12_000055 See all 7 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) 4.0E-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     
ABCA12 NM_173076.2 +?/. - c.4139A>G r.(?) p.(Asn1380Ser)