Variant #0000243554 (NC_000017.10:g.42427049G>A, NM_002087.2:c.(279G>A) (GRN))

Individual ID 00149211
Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.42427049G>A
DNA change (hg38) g.44349681G>A
Published as -
ISCN -
DB-ID GRN_000080 See all 3 reported entries
Variant remarks Observed in 2 FTD patients and 1 unaffected individual. /r/Silent point mutation in coding region
Reference -
ClinVar ID -
dbSNP ID rs63751088
Origin Unknown
Segregation no
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 8.0E-5 View details
Owner Marc Cruts
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2013-03-04 17:13:03 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRN NM_002087.2 -/- 4 c.(279G>A) r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000150067 DNA ? - - GRN 1 Marc Cruts


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