Variant #0000617281 (NC_000019.9:g.1037806_1037807insAC, ABCA7(NM_019112.3):c.-2527_-2526insAC)

Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.1037806_1037807insAC
DNA change (hg38) g.1037807_1037808insAC
Published as CNN2(NM_004368.2):c.837_838insAC (p.(Ala280ThrfsTer61))
ISCN -
DB-ID ABCA7_000035
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CNN2 NM_004368.2 ?/. - c.837_838insAC r.(?) p.(Ala280ThrfsTer61)
ABCA7 NM_019112.3 ?/. - c.-2527_-2526insAC r.(?) p.(=)