ClinVar

NM_016362.5(GHRL):c.176C>T (p.Pro59Leu)

Genes:

GHRL:ghrelin and obestatin prepropeptide [Gene - OMIM - HGNC]
GHRLOS:ghrelin opposite strand/antisense RNA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 10289811 (on Assembly GRCh38)
• Chr3: 10331495 (on Assembly GRCh37)

Preferred name:

NM_016362.5(GHRL):c.176C>T (p.Pro59Leu)

HGVS:

• NC_000003.12:g.10289811G>A
• NG_011560.1:g.8137C>T
• NG_033090.2:g.13860G>A
• NM_001134941.3:c.173C>T
• NM_001134944.2:c.140C>T
• NM_001134945.2:c.137C>T
• NM_001134946.2:c.73-2999C>T
• NM_001302821.2:c.176C>T
• NM_001302822.2:c.176C>T
• NM_001302823.2:c.173C>T
• NM_001302824.2:c.176C>T
• NM_001302825.2:c.176C>T
• NM_016362.3:c.176C>T
• NM_016362.5:c.176C>TMANE SELECT
• NP_001128413.1:p.Pro58Leu
• NP_001128416.1:p.Pro47Leu
• NP_001128417.1:p.Pro46Leu
• NP_001289750.1:p.Pro59Leu
• NP_001289751.1:p.Pro59Leu
• NP_001289752.1:p.Pro58Leu
• NP_001289753.1:p.Pro59Leu
• NP_001289754.1:p.Pro59Leu
• NP_057446.1:p.Pro59Leu
• NC_000003.11:g.10331495G>A

This HGVS expression did not pass validation

Protein change:

P46L

Links:

dbSNP: rs749962204

NCBI 1000 Genomes Browser:

rs749962204

Molecular consequence:

• NM_001134946.2:c.73-2999C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001134941.3:c.173C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134944.2:c.140C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134945.2:c.137C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001302821.2:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001302822.2:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001302823.2:c.173C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001302824.2:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001302825.2:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016362.5:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]