Variant #0000261643 (NC_000019.9:g.1062179G>A, NM_019112.3:c.5579G>A (ABCA7))

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.1062179G>A
DNA change (hg38) g.1062180G>A
Published as ABCA7(NM_019112.3):c.5579G>A (p.R1860Q)
ISCN -
DB-ID ABCA7_000013
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) 1.0E-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
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HMHA1 NM_001258328.1 -?/. - c.-3846G>A r.(?) p.(=)
POLR2E NM_002695.3 -?/. - c.*26555C>T r.(=) p.(=)
ABCA7 NM_019112.3 -?/. - c.5579G>A r.(?) p.(Arg1860Gln)


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