Genomic variant #0000177950

Individual ID 00110437
Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.48626771C>T
DNA change (hg38) g.48587175C>T
Published as hg18 48,597,317C>T
ISCN -
DB-ID ABCA13_000031 See all 6 reported entries
Variant remarks conserved amino acid
Reference PubMed: Knight 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 5/619
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00262 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ABCA13 NM_152701.3 +?/. 57 c.14527C>T - r.(?) p.(Arg4843Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000110968 DNA SEQ - - ABCA13 1 Johan den Dunnen