Variant #0000243437 (NC_000017.10:g.42426671G>A, NC_000017.10(NM_002087.2):c.138+1G>A (GRN))

Individual ID 00148807
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.42426671G>A
DNA change (hg38) g.44349303G>A
Published as -
ISCN -
DB-ID GRN_000074 See all 2 reported entries
Variant remarks Point mutation in intron 2 splice donor site predicted to cause exon 2 skipping, deletion of Kozak sequence and failed translation initiation
Reference -
ClinVar ID -
dbSNP ID rs63749844
Origin Unknown
Segregation no
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 2013-03-04 17:13:03 +01:00 (CET)
Date last edited 2020-07-13 16:39:44 +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 +/+ 1i_2i c.138+1G>A r.-7_138del p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000149663 DNA ? - - GRN 1 Marc Cruts


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