Variant #0000726445 (NC_000017.10:g.42426587C>T, NM_002087.2:c.55C>T (GRN))

Chromosome 17
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.42426587C>T
DNA change (hg38) -
Published as GRN(NM_002087.2):c.55C>T (p.R19W, p.(Arg19Trp)), GRN(NM_002087.4):c.55C>T (p.R19W)
ISCN -
DB-ID GRN_000005 See all 4 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) 0.00337 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2021-02-08 18:36:18 +01:00 (CET)
Date last edited 2024-08-28 13:16:32 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRN NM_002087.2 -?/. - c.55C>T r.(?) p.(Arg19Trp)
FAM171A2 NM_198475.2 -?/. - c.*4514G>A r.(=) p.(=)


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