Variant #0000001511 (NC_000001.11:g.171636000G>T, NM_000261.1:c.1440C>A (MYOC))

Individual ID 00000317
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.171636000G>T
Published as -
Reference Z Mimivati et al. (2014), dbSNP, (OMIM 0006), ClinVar
DB-ID MYOC_000001 See all 2 reported entries
dbSNP ID rs74315332
Frequency 25/32
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2021-01-04 15:40:47 +08:00 (CST)
Date last edited 2021-09-01 11:27:38 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
MYOC NM_000261.1 +/. 3 c.1440C>A - r.(?) p.(Asn480Lys) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000332 DNA PCR MYOC 4 Nuur Athirah Binti Mohd Daud