Variant #0000638800 (NC_000001.10:g.103491776G>A, COL11A1(NM_001190709.1):c.781-607C>T)

Individual ID 00281908
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.103491776G>A
DNA change (hg38) g.103026220G>A
Published as -
ISCN -
DB-ID COL11A1_000253
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Bean 2013
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL11A1 NM_001190709.1 ?/? 5i c.781-607C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000283058 DNA ? - - COL11A1 1 Global Variome, with Curator vacancy