ClinVar

NM_015650.4(TRAF3IP1):c.1821C>T (p.Ile607=)

Gene:

TRAF3IP1:TRAF3 interacting protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 238397590 (on Assembly GRCh38)
• Chr2: 239306231 (on Assembly GRCh37)

Preferred name:

NM_015650.4(TRAF3IP1):c.1821C>T (p.Ile607=)

HGVS:

• NC_000002.12:g.238397590C>T
• NG_053055.1:g.82102C>T
• NM_001139490.1:c.1623C>T
• NM_015650.4:c.1821C>TMANE SELECT
• NP_001132962.1:p.Ile541=
• NP_056465.2:p.Ile607=
• NC_000002.11:g.239306231C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001139490.1:c.1623C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015650.4:c.1821C>T - synonymous variant - [Sequence Ontology: SO:0001819]