ClinVar

NM_000751.3(CHRND):c.817G>A (p.Asp273Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.1

Genomic location:

• Chr2: 232530136 (on Assembly GRCh38)
• Chr2: 233394846 (on Assembly GRCh37)

Preferred name:

NM_000751.3(CHRND):c.817G>A (p.Asp273Asn)

Other names:

p.Asp273Asn

HGVS:

• NC_000002.12:g.232530136G>A
• NG_008028.1:g.8925G>A
• NM_000751.3:c.817G>AMANE SELECT
• NM_001256657.2:c.772G>A
• NM_001311195.2:c.239-1216G>A
• NM_001311196.2:c.514G>A
• NP_000742.1:p.Asp273Asn
• NP_001243586.1:p.Asp258Asn
• NP_001298125.1:p.Asp172Asn
• NC_000002.11:g.233394846G>A
• NM_000751.2:c.817G>A

This HGVS expression did not pass validation

Protein change:

D172N

Links:

dbSNP: rs202209156

NCBI 1000 Genomes Browser:

rs202209156

Molecular consequence:

• NM_001311195.2:c.239-1216G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000751.3:c.817G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256657.2:c.772G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001311196.2:c.514G>A - missense variant - [Sequence Ontology: SO:0001583]