Variant #0000244024 (NC_000017.10:g.39782339T>C, NM_002087.2:c.(158T>C) (GRN))

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.39782339T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID GRN_000008
Variant remarks Observed in 1 non-familial FTD patient, absent in 160 control individuals. /r/Point mutation in coding region predicting an amino acid substitution
Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message.
Reference -
ClinVar ID -
dbSNP ID rs63750481
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marc Cruts
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2013-05-01 13:44:57 +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 ?/? 3 c.(158T>C) r.(?) p.(Leu53Pro)


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