Variant #0000815600 (NC_000010.10:g.95372895T>C, NM_006204.3:c.413T>C (PDE6C))

Individual ID 00386205
Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.95372895T>C
DNA change (hg38) g.93613138T>C
Published as PDE6C:NM_006204 c.T413C, p.L138S
ISCN -
DB-ID PDE6C_000005 See all 4 reported entries
Variant remarks heterozygous, individual unsolved, causality of variants unknown
Reference PubMed: Rodriguez-Munoz 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00125 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-10-20 11:58:39 +02:00 (CEST)
Date last edited 2021-10-20 12:03:34 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDE6C NM_006204.3 ?/. - c.413T>C r.(?) p.(Leu138Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000387434 DNA SEQ-NG-I blood - CERKL 5 LOVD


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