ClinVar

NM_002905.5(RDH5):c.733+6T>C

Genes:

BLOC1S1-RDH5:BLOC1S1-RDH5 readthrough [Gene]
CD63:CD63 molecule [Gene - OMIM - HGNC]
RDH5:retinol dehydrogenase 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.2

Genomic location:

• Chr12: 55724055 (on Assembly GRCh38)
• Chr12: 56117839 (on Assembly GRCh37)

Preferred name:

NM_002905.5(RDH5):c.733+6T>C

HGVS:

• NC_000012.12:g.55724055T>C
• NG_008347.1:g.10072A>G
• NG_008606.1:g.8689T>C
• NM_001199771.3:c.733+6T>C
• NM_002905.5:c.733+6T>CMANE SELECT
• NC_000012.11:g.56117839T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs754803452

NCBI 1000 Genomes Browser:

rs754803452

Molecular consequence:

• NM_001199771.3:c.733+6T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_002905.5:c.733+6T>C - intron variant - [Sequence Ontology: SO:0001627]

Observations:

2