ClinVar

NM_016464.5(TMEM138):c.45C>T (p.Phe15=)

Gene:

TMEM138:transmembrane protein 138 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.2

Genomic location:

• Chr11: 61364435 (on Assembly GRCh38)
• Chr11: 61131907 (on Assembly GRCh37)

Preferred name:

NM_016464.5(TMEM138):c.45C>T (p.Phe15=)

HGVS:

• NC_000011.10:g.61364435C>T
• NG_032581.2:g.7063C>T
• NM_001330281.2:c.-47+120C>T
• NM_001410997.1:c.45C>T
• NM_001410998.1:c.45C>T
• NM_001410999.1:c.45C>T
• NM_016464.5:c.45C>TMANE SELECT
• NP_001397926.1:p.Phe15=
• NP_001397927.1:p.Phe15=
• NP_001397928.1:p.Phe15=
• NP_057548.1:p.Phe15=
• NC_000011.9:g.61131907C>T
• NG_032581.1:g.7435C>T
• NR_028473.2:n.114C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001330281.2:c.-47+120C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_028473.2:n.114C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001410997.1:c.45C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001410998.1:c.45C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001410999.1:c.45C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016464.5:c.45C>T - synonymous variant - [Sequence Ontology: SO:0001819]