ClinVar

NM_001375978.1(CHRM3):c.1059C>T (p.Asp353=)

Gene:

CHRM3:cholinergic receptor muscarinic 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 239908510 (on Assembly GRCh38)
• Chr1: 240071810 (on Assembly GRCh37)

Preferred name:

NM_001375978.1(CHRM3):c.1059C>T (p.Asp353=)

HGVS:

• NC_000001.11:g.239908510C>T
• NG_032046.2:g.526581C>T
• NM_000740.4:c.1059C>T
• NM_001347716.2:c.1059C>T
• NM_001375978.1:c.1059C>TMANE SELECT
• NM_001375979.1:c.1059C>T
• NM_001375980.1:c.1059C>T
• NM_001375981.1:c.1059C>T
• NM_001375982.1:c.1059C>T
• NM_001375983.1:c.1059C>T
• NM_001375984.1:c.1059C>T
• NM_001375985.1:c.1059C>T
• NP_000731.1:p.Asp353=
• NP_001334645.1:p.Asp353=
• NP_001362907.1:p.Asp353=
• NP_001362908.1:p.Asp353=
• NP_001362909.1:p.Asp353=
• NP_001362910.1:p.Asp353=
• NP_001362911.1:p.Asp353=
• NP_001362912.1:p.Asp353=
• NP_001362913.1:p.Asp353=
• NP_001362914.1:p.Asp353=
• NC_000001.10:g.240071810C>T
• NC_000001.10:g.240071810C>T
• NM_000740.2:c.1059C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs139009806

NCBI 1000 Genomes Browser:

rs139009806

Molecular consequence:

• NM_000740.4:c.1059C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347716.2:c.1059C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375978.1:c.1059C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375979.1:c.1059C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375980.1:c.1059C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375981.1:c.1059C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375982.1:c.1059C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375983.1:c.1059C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375984.1:c.1059C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375985.1:c.1059C>T - synonymous variant - [Sequence Ontology: SO:0001819]