ClinVar

NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)

Gene:

CHRND:cholinergic receptor nicotinic delta subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.1

Genomic location:

• Chr2: 232533988 (on Assembly GRCh38)
• Chr2: 233398698 (on Assembly GRCh37)

Preferred name:

NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)

HGVS:

• NC_000002.12:g.232533988C>T
• NG_008028.1:g.12777C>T
• NM_000751.3:c.1105C>TMANE SELECT
• NM_001256657.2:c.1060C>T
• NM_001311195.2:c.523C>T
• NM_001311196.2:c.802C>T
• NP_000742.1:p.Pro369Ser
• NP_001243586.1:p.Pro354Ser
• NP_001298124.1:p.Pro175Ser
• NP_001298125.1:p.Pro268Ser
• NC_000002.11:g.233398698C>T
• NM_000751.2:c.1105C>T

This HGVS expression did not pass validation

Protein change:

P175S

Links:

dbSNP: rs2229194

NCBI 1000 Genomes Browser:

rs2229194

Molecular consequence:

• NM_000751.3:c.1105C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256657.2:c.1060C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001311195.2:c.523C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001311196.2:c.802C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1