ClinVar

NM_001982.4(ERBB3):c.180G>A (p.Met60Ile)

Gene:

ERBB3:erb-b2 receptor tyrosine kinase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.2

Genomic location:

• Chr12: 56083848 (on Assembly GRCh38)
• Chr12: 56477632 (on Assembly GRCh37)

Preferred name:

NM_001982.4(ERBB3):c.180G>A (p.Met60Ile)

HGVS:

• NC_000012.12:g.56083848G>A
• NG_011529.1:g.8741G>A
• NM_001005915.1:c.180G>A
• NM_001982.4:c.180G>AMANE SELECT
• NP_001005915.1:p.Met60Ile
• NP_001973.2:p.Met60Ile
• NP_001973.2:p.Met60Ile
• LRG_996t1:c.180G>A
• LRG_996t2:c.180G>A
• LRG_996:g.8741G>A
• LRG_996p1:p.Met60Ile
• LRG_996p2:p.Met60Ile
• NC_000012.11:g.56477632G>A
• NM_001982.3:c.180G>A

This HGVS expression did not pass validation

Protein change:

M60I

Molecular consequence:

• NM_001005915.1:c.180G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001982.4:c.180G>A - missense variant - [Sequence Ontology: SO:0001583]