Variant #0000347682 (NC_000012.11:g.124197114T>C, NM_024809.4:c.*4854T>C (TCTN2))

Chromosome 12
Allele Unknown
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.124197114T>C
DNA change (hg38) g.123712567T>C
Published as -
ISCN -
DB-ID ATP6V0A2_000034
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-07-03 11:26:14 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP6V0A2 NM_012463.3 +?/. - c.2T>C r.(?) p.(Met1?)
TCTN2 NM_024809.4 +?/. - c.*4854T>C r.(=) p.(=)


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