ClinVar

NM_000515.5(GH1):c.152T>A (p.Phe51Tyr)

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: 63918365 (on Assembly GRCh38)
• Chr17: 61995725 (on Assembly GRCh37)

Preferred name:

NM_000515.5(GH1):c.152T>A (p.Phe51Tyr)

HGVS:

• NC_000017.11:g.63918365A>T
• NG_011676.1:g.5474T>A
• NG_042788.1:g.1273A>T
• NM_000515.5:c.152T>AMANE SELECT
• NM_022559.4:c.152T>A
• NM_022560.4:c.152T>A
• NP_000506.2:p.Phe51Tyr
• NP_072053.1:p.Phe51Tyr
• NP_072054.1:p.Phe51Tyr
• NC_000017.10:g.61995725A>T
• NM_000515.3:c.152T>A
• NM_000515.4:c.152T>A

This HGVS expression did not pass validation

Protein change:

F51Y

Links:

dbSNP: rs61735357

NCBI 1000 Genomes Browser:

rs61735357

Molecular consequence:

• NM_000515.5:c.152T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022559.4:c.152T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022560.4:c.152T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1