Variant #0000261644 (NC_000019.9:g.1065305G>A, ABCA7(NM_019112.3):c.6322G>A)

Chromosome 19
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.1065305G>A
DNA change (hg38) g.1065306G>A
Published as ABCA7(NM_019112.3):c.6322G>A (p.E2108K)
ISCN -
DB-ID ABCA7_000014
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00083 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     
HMHA1 NM_001258328.1 -?/. - c.-720G>A r.(?) p.(=)
POLR2E NM_002695.3 -?/. - c.*23429C>T r.(=) p.(=)
ABCA7 NM_019112.3 -?/. - c.6322G>A r.(?) p.(Glu2108Lys)