Variant #0000541817 (NC_000011.9:g.102980505T>C, NC_000011.9(NM_001080463.1):c.195+7T>C (DYNC2H1))

Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.102980505T>C
DNA change (hg38) g.103109776T>C
Published as DYNC2H1(NM_001080463.1):c.195+7T>C (p.(=))
ISCN -
DB-ID DYNC2H1_000014 See all 2 reported entries
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) 0.01047 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2025-02-07 18:57:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DYNC2H1 NM_001080463.1 -/. - c.195+7T>C r.(=) p.(=)


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