Variant #0000821763 (NC_000014.8:g.77771103T>C, NM_013382.5:c.479A>G (POMT2))

Individual ID 00390596
Chromosome 14
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.77771103T>C
DNA change (hg38) g.77304760T>C
Published as -
ISCN -
DB-ID POMT2_000214 See all 2 reported entries
Variant remarks -
Reference PubMed: Song 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-11-10 16:44:31 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 +/. - c.479A>G r.(?) p.(Tyr160Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000391837 DNA SEQ;SEQ-NG - - - 2 Johan den Dunnen


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