Variant #0000854944 (NC_000017.10:g.42426845G>A, NM_002087.2:c.190G>A (GRN))

Chromosome 17
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.42426845G>A
DNA change (hg38) -
Published as GRN(NM_002087.2):c.190G>A (p.D64N)
ISCN -
DB-ID FAM171A2_000024
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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2022-05-09 15:47:41 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRN NM_002087.2 ?/. - c.190G>A r.(?) p.(Asp64Asn)
FAM171A2 NM_198475.2 ?/. - c.*4256C>T r.(=) p.(=)


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