ClinVar

NM_012416.4(RANBP6):c.5C>T (p.Ala2Val)

Gene:

RANBP6:RAN binding protein 6 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p24.1

Genomic location:

• Chr9: 6015603 (on Assembly GRCh38)
• Chr9: 6015603 (on Assembly GRCh37)

Preferred name:

NM_012416.4(RANBP6):c.5C>T (p.Ala2Val)

HGVS:

• NC_000009.12:g.6015603G>A
• NM_001243202.2:c.5C>T
• NM_001243203.2:c.5C>T
• NM_012416.4:c.5C>TMANE SELECT
• NP_001230131.1:p.Ala2Val
• NP_001230132.1:p.Ala2Val
• NP_036548.1:p.Ala2Val
• NC_000009.11:g.6015603G>A
• NM_012416.3:c.5C>T
• NR_024094.1:n.38C>T
• NR_024095.1:n.38C>T

This HGVS expression did not pass validation

Protein change:

A2V

Molecular consequence:

• NM_001243202.2:c.5C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243203.2:c.5C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012416.4:c.5C>T - missense variant - [Sequence Ontology: SO:0001583]