ClinVar

NM_001130823.3(DNMT1):c.1314C>T (p.Ile438=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 10156476 (on Assembly GRCh38)
• Chr19: 10267152 (on Assembly GRCh37)

Preferred name:

NM_001130823.3(DNMT1):c.1314C>T (p.Ile438=)

HGVS:

• NC_000019.10:g.10156476G>A
• NG_028016.3:g.79811C>T
• NM_001130823.3:c.1314C>TMANE SELECT
• NM_001318730.2:c.1266C>T
• NM_001318731.2:c.951C>T
• NM_001379.4:c.1266C>T
• NP_001124295.1:p.Ile438=
• NP_001305659.1:p.Ile422=
• NP_001305660.1:p.Ile317=
• NP_001370.1:p.Ile422=
• LRG_362t1:c.1314C>T
• LRG_362:g.79811C>T
• NC_000019.9:g.10267152G>A
• NM_001130823.1:c.1314C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs201487376

NCBI 1000 Genomes Browser:

rs201487376

Molecular consequence:

• NM_001130823.3:c.1314C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318730.2:c.1266C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318731.2:c.951C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001379.4:c.1266C>T - synonymous variant - [Sequence Ontology: SO:0001819]