Variant #0000948017 (NC_000003.11:g.128513786C>T, NC_000003.11(NM_004637.5):c.-8-417C>T (RAB7A))

Chromosome 3
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.128513786C>T
DNA change (hg38) -
Published as RAB7A(NM_004637.6):c.-8-417C>T
ISCN -
DB-ID RAB7A_000016
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_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2023-11-27 17:35:39 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RAB7A NM_004637.5 -/. - c.-8-417C>T r.(=) p.(=)


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