ClinVar

NM_170744.5(UNC5B):c.2215G>A (p.Val739Met)

Gene:

UNC5B:unc-5 netrin receptor B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 71295850 (on Assembly GRCh38)
• Chr10: 73055607 (on Assembly GRCh37)

Preferred name:

NM_170744.5(UNC5B):c.2215G>A (p.Val739Met)

HGVS:

• NC_000010.11:g.71295850G>A
• NG_119747.1:g.491G>A
• NM_001244889.2:c.2182G>A
• NM_170744.5:c.2215G>AMANE SELECT
• NP_001231818.1:p.Val728Met
• NP_734465.2:p.Val739Met
• NC_000010.10:g.73055607G>A

This HGVS expression did not pass validation

Protein change:

V728M

Molecular consequence:

• NM_001244889.2:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_170744.5:c.2215G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1