ClinVar

NM_001287491.2(TET3):c.648T>C (p.Leu216=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.1

Genomic location:

• Chr2: 74046565 (on Assembly GRCh38)
• Chr2: 74273692 (on Assembly GRCh37)

Preferred name:

NM_001287491.2(TET3):c.648T>C (p.Leu216=)

HGVS:

• NC_000002.12:g.74046565T>C
• NM_001287491.2:c.648T>CMANE SELECT
• NM_001366022.1:c.369T>C
• NM_144993.1:c.243T>C
• NP_001274420.1:p.Leu216=
• NP_001352951.1:p.Leu123=
• NP_659430.1:p.Leu81=
• NC_000002.11:g.74273692T>C

This HGVS expression did not pass validation

Molecular consequence:

• NM_001287491.2:c.648T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001366022.1:c.369T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_144993.1:c.243T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2