ClinVar

NM_001130823.3(DNMT1):c.410C>T (p.Thr137Met)

Gene:

DNMT1:DNA methyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 10180385 (on Assembly GRCh38)
• Chr19: 10291061 (on Assembly GRCh37)

Preferred name:

NM_001130823.3(DNMT1):c.410C>T (p.Thr137Met)

HGVS:

• NC_000019.10:g.10180385G>A
• NG_028016.3:g.55902C>T
• NM_001130823.3:c.410C>TMANE SELECT
• NM_001318730.2:c.410C>T
• NM_001318731.2:c.47C>T
• NM_001379.2:c.410C>T
• NM_001379.4:c.410C>T
• NP_001124295.1:p.Thr137Met
• NP_001305659.1:p.Thr137Met
• NP_001305660.1:p.Thr16Met
• NP_001370.1:p.Thr137Met
• LRG_362t1:c.410C>T
• LRG_362:g.55902C>T
• NC_000019.9:g.10291061G>A
• NM_001130823.1:c.410C>T

This HGVS expression did not pass validation

Protein change:

T137M

Links:

dbSNP: rs377146699

NCBI 1000 Genomes Browser:

rs377146699

Molecular consequence:

• NM_001130823.3:c.410C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318730.2:c.410C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318731.2:c.47C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379.4:c.410C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2