Variant #0000813977 (NC_000009.11:g.102988434A>C, NM_014425.3:c.364A>C (INVS))

Individual ID 00385225
Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.102988434A>C
DNA change (hg38) -
Published as c.[364A>C];[=]
ISCN -
DB-ID INVS_000033
Variant remarks normal 2nd chromosome
Reference PubMed: Redin-2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2021-10-09 03:44:00 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
INVS NM_014425.3 ?/. 4 c.364A>C r.(?) p.(Thr122Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386454 DNA arrayCNV;SEQ blood - AHI1 2 LOVD


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