ClinVar

NM_000515.5(GH1):c.291+2T>C

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: 63918015 (on Assembly GRCh38)
• Chr17: 61995375 (on Assembly GRCh37)

Preferred name:

NM_000515.5(GH1):c.291+2T>C

HGVS:

• NC_000017.11:g.63918015A>G
• NG_011676.1:g.5824T>C
• NG_042788.1:g.923A>G
• NM_000515.5:c.291+2T>CMANE SELECT
• NM_022559.4:c.246+2T>C
• NM_022560.4:c.172-91T>C
• NC_000017.10:g.61995375A>G
• NM_000515.3:c.291+2T>C
• NM_000515.4:c.291+2T>C

This HGVS expression did not pass validation

Note:

NCBI staff reviewed the sequence information reported in PubMed 12574219 Fig. 3 to determine the location of this allele on the current reference sequence.

Nucleotide change:

IVS3DS, T-C, +2

Links:

OMIM: 139250.0019; dbSNP: rs863223310

NCBI 1000 Genomes Browser:

rs863223310

Molecular consequence:

• NM_022560.4:c.172-91T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000515.5:c.291+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_022559.4:c.246+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]