Variant #0000326016 (NC_000019.9:g.1037810G>C, ABCA7(NM_019112.3):c.-2523G>C)

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.1037810G>C
DNA change (hg38) g.1037811G>C
Published as CNN2(NM_004368.2):c.841G>C (p.(Asp281His))
ISCN -
DB-ID CNN2_000005
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) 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CNN2 NM_004368.2 -?/. - c.841G>C r.(?) p.(Asp281His)
ABCA7 NM_019112.3 -?/. - c.-2523G>C r.(?) p.(=)