ClinVar

NM_001287491.2(TET3):c.2034C>T (p.Pro678=)

Gene:

TET3:tet methylcytosine dioxygenase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.1

Genomic location:

• Chr2: 74047951 (on Assembly GRCh38)
• Chr2: 74275078 (on Assembly GRCh37)

Preferred name:

NM_001287491.2(TET3):c.2034C>T (p.Pro678=)

HGVS:

• NC_000002.12:g.74047951C>T
• NM_001287491.2:c.2034C>TMANE SELECT
• NM_001366022.1:c.1755C>T
• NM_144993.1:c.1629C>T
• NP_001274420.1:p.Pro678=
• NP_001352951.1:p.Pro585=
• NP_659430.1:p.Pro543=
• NC_000002.11:g.74275078C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001287491.2:c.2034C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001366022.1:c.1755C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_144993.1:c.1629C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1