ClinVar

NM_004703.6(RABEP1):c.1179G>A (p.Ser393=)

Gene:

RABEP1:rabaptin, RAB GTPase binding effector protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 5361291 (on Assembly GRCh38)
• Chr17: 5264586 (on Assembly GRCh37)

Preferred name:

NM_004703.6(RABEP1):c.1179G>A (p.Ser393=)

HGVS:

• NC_000017.11:g.5361291G>A
• NM_001083585.3:c.1179G>A
• NM_001291581.2:c.1050G>A
• NM_004703.6:c.1179G>AMANE SELECT
• NP_001077054.1:p.Ser393=
• NP_001278510.1:p.Ser350=
• NP_004694.2:p.Ser393=
• NC_000017.10:g.5264586G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001083585.3:c.1179G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001291581.2:c.1050G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004703.6:c.1179G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1