Variant #0000158455 (NC_000013.10:g.113765164G>C, NM_000131.4:c.291G>C (F7))

Individual ID 00096058
Chromosome 13
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method EAHAD-CFDB
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.113765164G>C
DNA change (hg38) g.113110850G>C
Published as -
ISCN -
DB-ID F7_000026
Variant remarks -
Reference PubMed: Millar 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pavithra Rallapalli
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2014-09-12 16:49:53 +02:00 (CEST)
Date last edited 2018-09-29 12:26:25 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
F7 NM_000131.4 ?/? 3 c.291G>C r.(?) p.(Thr97=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000096461 DNA SEQ - - F7 1 Pavithra Rallapalli


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