ClinVar

NM_001127208.3(TET2):c.1712G>A (p.Arg571His)

Genes:

TET2-AS1:TET2 antisense RNA 1 [Gene - HGNC]
TET2:tet methylcytosine dioxygenase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q24

Genomic location:

• Chr4: 105235654 (on Assembly GRCh38)
• Chr4: 106156811 (on Assembly GRCh37)

Preferred name:

NM_001127208.3(TET2):c.1712G>A (p.Arg571His)

HGVS:

• NC_000004.12:g.105235654G>A
• NG_028191.1:g.94780G>A
• NM_001127208.3:c.1712G>AMANE SELECT
• NM_017628.4:c.1712G>A
• NP_001120680.1:p.Arg571His
• NP_001120680.1:p.Arg571His
• NP_060098.3:p.Arg571His
• LRG_626t1:c.1712G>A
• LRG_626t2:c.1712G>A
• LRG_626:g.94780G>A
• LRG_626p1:p.Arg571His
• LRG_626p2:p.Arg571His
• NC_000004.11:g.106156811G>A
• NM_001127208.2:c.1712G>A

This HGVS expression did not pass validation

Protein change:

R571H

Molecular consequence:

• NM_001127208.3:c.1712G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_017628.4:c.1712G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1