Variant #0000063828 (NC_000003.11:g.128526409C>G, NM_004637.5:c.423C>G (RAB7A))

Individual ID 00036633
Chromosome 3
Allele Parent #1
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.128526409C>G
DNA change (hg38) g.128807566C>G
Published as -
ISCN -
DB-ID RAB7A_000005 See all 3 reported entries
Variant remarks IPNM
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00287 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2015-04-02 13:01:39 +02:00 (CEST)
Date last edited 2018-12-28 12:47:34 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RAB7A NM_004637.5 -/. - c.423C>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036703 DNA SEQ - - RAB7A 1 Andreas Laner


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