ClinVar

NM_000515.5(GH1):c.302T>C (p.Leu101Pro)

Genes:

GH1:growth hormone 1 [Gene - OMIM - HGNC]
GH-LCR:growth hormone locus control region [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q23.3

Genomic location:

• Chr17: 63917914 (on Assembly GRCh38)
• Chr17: 61995274 (on Assembly GRCh37)

Preferred name:

NM_000515.5(GH1):c.302T>C (p.Leu101Pro)

HGVS:

• NC_000017.11:g.63917914A>G
• NG_011676.1:g.5925T>C
• NG_042788.1:g.822A>G
• NM_000515.5:c.302T>CMANE SELECT
• NM_022559.4:c.257T>C
• NM_022560.4:c.182T>C
• NP_000506.2:p.Leu101Pro
• NP_072053.1:p.Leu86Pro
• NP_072054.1:p.Leu61Pro
• NC_000017.10:g.61995274A>G
• NM_000515.3:c.302T>C

This HGVS expression did not pass validation

Protein change:

L101P

Links:

dbSNP: rs1907452711

NCBI 1000 Genomes Browser:

rs1907452711

Molecular consequence:

• NM_000515.5:c.302T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_022559.4:c.257T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_022560.4:c.182T>C - missense variant - [Sequence Ontology: SO:0001583]