Variant #0000001782 (NC_000003.11:g.128526457G>C, RAB7A(NM_004637.5):c.471G>C)

Individual ID 00001782
Chromosome 3
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.128526457G>C
Reference Meggouh F1, Bienfait HM, Weterman MA, de Visser M, Baas F.(2006)
DB-ID RAB7A_000004 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
RAB7A NM_004637.5 ./. 5 c.471G>C r.(?) p.(Lys157Asn) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001782 ? ? RAB7A 1 Y Yang