Variant #0000731446 (NC_000003.11:g.195975135C>T, NM_005017.2:c.277G>A (PCYT1A))

Individual ID 00332449
Chromosome 3
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.195975135C>T
DNA change (hg38) g.196248264C>T
Published as -
ISCN -
DB-ID PCYT1A_000002 See all 4 reported entries
Variant remarks -
Reference PubMed: DiIorio 2017
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-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-02-19 15:15:03 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCYT1A NM_005017.2 +?/. - c.277G>A r.(?) p.(Ala93Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000333673 DNA SEQ-NG - 150-gene panel PCYT1A 2 LOVD


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