ClinVar

NM_001130823.3(DNMT1):c.2835C>T (p.Asn945=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 10146410 (on Assembly GRCh38)
• Chr19: 10257086 (on Assembly GRCh37)

Preferred name:

NM_001130823.3(DNMT1):c.2835C>T (p.Asn945=)

HGVS:

• NC_000019.10:g.10146410G>A
• NG_028016.3:g.89877C>T
• NM_001130823.3:c.2835C>TMANE SELECT
• NM_001318730.2:c.2787C>T
• NM_001318731.2:c.2472C>T
• NM_001379.4:c.2787C>T
• NP_001124295.1:p.Asn945=
• NP_001305659.1:p.Asn929=
• NP_001305660.1:p.Asn824=
• NP_001370.1:p.Asn929=
• LRG_362t1:c.2835C>T
• LRG_362:g.89877C>T
• NC_000019.9:g.10257086G>A
• NM_001130823.1:c.2835C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs539948794

NCBI 1000 Genomes Browser:

rs539948794

Molecular consequence:

• NM_001130823.3:c.2835C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318730.2:c.2787C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318731.2:c.2472C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001379.4:c.2787C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2