ClinVar

NM_016277.5(RAB23):c.534T>C (p.Ala178=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p12.1

Genomic location:

• Chr6: 57193882 (on Assembly GRCh38)
• Chr6: 57058680 (on Assembly GRCh37)

Preferred name:

NM_016277.5(RAB23):c.534T>C (p.Ala178=)

HGVS:

• NC_000006.12:g.57193882A>G
• NG_012170.1:g.33399T>C
• NM_001278666.2:c.534T>C
• NM_001278667.2:c.534T>C
• NM_001278668.2:c.534T>C
• NM_016277.5:c.534T>CMANE SELECT
• NM_183227.3:c.534T>C
• NP_001265595.1:p.Ala178=
• NP_001265596.1:p.Ala178=
• NP_001265597.1:p.Ala178=
• NP_057361.3:p.Ala178=
• NP_899050.1:p.Ala178=
• NP_899050.1:p.Ala178=
• NC_000006.11:g.57058680A>G
• NM_183227.2:c.534T>C
• NR_103822.2:n.386T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs201820320

Molecular consequence:

• NR_103822.2:n.386T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001278666.2:c.534T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278667.2:c.534T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278668.2:c.534T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016277.5:c.534T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_183227.3:c.534T>C - synonymous variant - [Sequence Ontology: SO:0001819]