Variant #0001012735 (NC_000004.11:g.109748325C>T, NM_198721.2:c.1730G>A (COL25A1))

Individual ID 00456509
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.109748325C>T
DNA change (hg38) g.108827169C>T
Published as -
ISCN -
DB-ID COL25A1_000058 See all 2 reported entries
Variant remarks -
Reference PubMed: Harms 2025
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Frederike Leonie Harms
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Frederike Leonie Harms
Date created 2024-10-28 13:47:29 +01:00 (CET)
Date last edited 2025-03-31 13:50:40 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL25A1 NM_198721.2 +/. - c.1730G>A r.(1730g>a) p.(Gly577Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000458126 DNA SEQ-NG-I blood WES COL25A1 1 Frederike Leonie Harms


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