Full data view for gene RAB7A

Information The variants shown are described using the NM_004637.5 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

Panel size     

Owner     
./. 5 c.471G>C r.(?) p.(Lys157Asn) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.128526457G>C Meggouh F1, Bienfait HM, Weterman MA, de Visser M, Baas F.(2006) RAB7A_000004 - ? ? HSAN Meggouh F1, Bienfait HM, Weterman MA, de Visser M, Baas F.(2006) - - 1 Y Yang
./. 5 c.471G>C r.(?) p.(Lys157Asn) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.128526457G>C Meggouh F1, Bienfait HM, Weterman MA, de Visser M, Baas F.(2006) RAB7A_000004 - ? ? HMSN Meggouh F1, Bienfait HM, Weterman MA, de Visser M, Baas F.(2006) - - 1 Y Yang
Legend   How to query