ClinVar

NM_002303.6(LEPR):c.-120C>T

Genes:

LEPROT:leptin receptor overlapping transcript [Gene - OMIM - HGNC]
LEPR:leptin receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.3

Genomic location:

• Chr1: 65420717 (on Assembly GRCh38)
• Chr1: 65886400 (on Assembly GRCh37)

Preferred name:

NM_002303.6(LEPR):c.-120C>T

HGVS:

• NC_000001.11:g.65420717C>T
• NG_015831.2:g.5153C>T
• NG_091337.2:g.836C>T
• NM_001003679.3:c.-120C>T
• NM_001003680.3:c.-120C>T
• NM_001198681.2:c.-113C>T
• NM_001198683.2:c.-8C>T
• NM_002303.6:c.-120C>TMANE SELECT
• NM_017526.5:c.-8C>TMANE SELECT
• LRG_283t1:c.-120C>T
• LRG_283t2:c.-120C>T
• LRG_283t3:c.-120C>T
• LRG_283:g.5153C>T
• NC_000001.10:g.65886400C>T
• NM_002303.5:c.-120C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs189950527

NCBI 1000 Genomes Browser:

rs189950527

Molecular consequence:

• NM_001003679.3:c.-120C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001003680.3:c.-120C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001198681.2:c.-113C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001198683.2:c.-8C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_002303.6:c.-120C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_017526.5:c.-8C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]