ClinVar

NM_024757.5(EHMT1):c.1950C>T (p.Thr650=)

Gene:

EHMT1:euchromatic histone lysine methyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 137776776 (on Assembly GRCh38)
• Chr9: 140671228 (on Assembly GRCh37)

Preferred name:

NM_024757.5(EHMT1):c.1950C>T (p.Thr650=)

HGVS:

• NC_000009.12:g.137776776C>T
• NG_011776.1:g.162785C>T
• NM_001145527.2:c.1950C>T
• NM_001354259.2:c.1857C>T
• NM_001354263.2:c.1929C>T
• NM_024757.5:c.1950C>TMANE SELECT
• NP_001138999.1:p.Thr650=
• NP_001341188.1:p.Thr619=
• NP_001341192.1:p.Thr643=
• NP_079033.4:p.Thr650=
• NC_000009.11:g.140671228C>T
• NM_024757.4:c.1950C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs199839806

NCBI 1000 Genomes Browser:

rs199839806

Molecular consequence:

• NM_001145527.2:c.1950C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354259.2:c.1857C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354263.2:c.1929C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024757.5:c.1950C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

3