ClinVar

NM_016277.5(RAB23):c.25G>A (p.Ala9Thr)

Gene:

RAB23:RAB23, member RAS oncogene family [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p11.2

Genomic location:

• Chr6: 57210356 (on Assembly GRCh38)
• Chr6: 57075154 (on Assembly GRCh37)

Preferred name:

NM_016277.5(RAB23):c.25G>A (p.Ala9Thr)

HGVS:

• NC_000006.12:g.57210356C>T
• NG_012170.1:g.16925G>A
• NM_001278666.2:c.25G>A
• NM_001278667.2:c.25G>A
• NM_001278668.2:c.25G>A
• NM_016277.5:c.25G>AMANE SELECT
• NM_183227.3:c.25G>A
• NP_001265595.1:p.Ala9Thr
• NP_001265596.1:p.Ala9Thr
• NP_001265597.1:p.Ala9Thr
• NP_057361.3:p.Ala9Thr
• NP_899050.1:p.Ala9Thr
• NP_899050.1:p.Ala9Thr
• NC_000006.11:g.57075154C>T
• NM_183227.2:c.25G>A
• NR_103822.2:n.203G>A

This HGVS expression did not pass validation

Protein change:

A9T

Links:

dbSNP: rs150655349

NCBI 1000 Genomes Browser:

rs150655349

Molecular consequence:

• NM_001278666.2:c.25G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278667.2:c.25G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278668.2:c.25G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016277.5:c.25G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_183227.3:c.25G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_103822.2:n.203G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]