ClinVar

NM_000080.4(CHRNE):c.252A>G (p.Arg84=)

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: 4902309 (on Assembly GRCh38)
• Chr17: 4805604 (on Assembly GRCh37)

Preferred name:

NM_000080.4(CHRNE):c.252A>G (p.Arg84=)

HGVS:

• NC_000017.11:g.4902309T>C
• NG_008029.2:g.5767A>G
• NG_135290.1:g.600T>C
• NM_000080.4:c.252A>GMANE SELECT
• NM_001145536.2:c.*1776T>CMANE SELECT
• NP_000071.1:p.Arg84=
• LRG_1254t1:c.252A>G
• LRG_1254:g.5767A>G
• LRG_1254p1:p.Arg84=
• NC_000017.10:g.4805604T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs2151098586

NCBI 1000 Genomes Browser:

rs2151098586

Molecular consequence:

• NM_001145536.2:c.*1776T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000080.4:c.252A>G - synonymous variant - [Sequence Ontology: SO:0001819]