Variant #0000288858 (NC_000017.10:g.42426898del, NM_002087.2:c.243del (GRN))

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.42426898del
DNA change (hg38) g.44349530del
Published as GRN(NM_002087.2):c.243delC (p.S82Vfs*174), GRN(NM_002087.4):c.243delC (p.S82Vfs*174)
ISCN -
DB-ID GRN_000077 See all 2 reported entries
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 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRN NM_002087.2 +/. - c.243del r.(?) p.(Ser82ValfsTer174)
FAM171A2 NM_198475.2 +/. - c.*4204del r.(?) p.(=)


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