ClinVar

NM_000233.4(LHCGR):c.1669G>A (p.Glu557Lys)

Genes:

STON1-GTF2A1L:STON1-GTF2A1L readthrough [Gene - HGNC]
LHCGR:luteinizing hormone/choriogonadotropin receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 48688128 (on Assembly GRCh38)
• Chr2: 48915267 (on Assembly GRCh37)

Preferred name:

NM_000233.4(LHCGR):c.1669G>A (p.Glu557Lys)

HGVS:

• NC_000002.12:g.48688128C>T
• NG_008193.2:g.72614G>A
• NG_033050.2:g.163204C>T
• NM_000233.4:c.1669G>AMANE SELECT
• NM_001198593.2:c.3441+16448C>T
• NP_000224.2:p.Glu557Lys
• NC_000002.11:g.48915267C>T
• NM_000233.3:c.1669G>A

This HGVS expression did not pass validation

Protein change:

E557K

Links:

dbSNP: rs146785679

NCBI 1000 Genomes Browser:

rs146785679

Molecular consequence:

• NM_001198593.2:c.3441+16448C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000233.4:c.1669G>A - missense variant - [Sequence Ontology: SO:0001583]