Variant #0000048373 (NC_000009.11:g.134394249G>C, NM_007171.3:c.1457G>C (POMT1))

Individual ID 00025480
Chromosome 9
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.134394249G>C
DNA change (hg38) g.131518862G>C
Published as -
ISCN -
DB-ID POMT1_000094 See all 8 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Yanghaipo
Database submission license No license selected
Created by Yanghaipo
Date created 2014-12-10 14:50:47 +01:00 (CET)
Date last edited 2014-12-12 13:12:39 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POMT1 NM_007171.3 +?/. 15 c.1457G>C r.(?) p.(Trp486Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025484 DNA SEQ - - POMT1 2 Yanghaipo


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