ClinVar

NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr)

Genes:

CHRNE:cholinergic receptor nicotinic epsilon subunit [Gene - OMIM - HGNC]
C17orf107:chromosome 17 open reading frame 107 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 4902011 (on Assembly GRCh38)
• Chr17: 4805306 (on Assembly GRCh37)

Preferred name:

NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr)

HGVS:

• NC_000017.11:g.4902011G>T
• NG_008029.2:g.6065C>A
• NG_135290.1:g.302G>T
• NM_000080.4:c.421C>AMANE SELECT
• NM_001145536.2:c.*1478G>TMANE SELECT
• NP_000071.1:p.Pro141Thr
• LRG_1254t1:c.421C>A
• LRG_1254:g.6065C>A
• LRG_1254p1:p.Pro141Thr
• NC_000017.10:g.4805306G>T
• NM_000080.3:c.421C>A

This HGVS expression did not pass validation

Protein change:

P141T

Links:

dbSNP: rs483353045

NCBI 1000 Genomes Browser:

rs483353045

Molecular consequence:

• NM_001145536.2:c.*1478G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000080.4:c.421C>A - missense variant - [Sequence Ontology: SO:0001583]