ClinVar

NM_001005177.3(OR52R1):c.81G>C (p.Gln27His)

Genes:

MMP26:matrix metallopeptidase 26 [Gene - OMIM - HGNC]
OR52R1:olfactory receptor family 52 subfamily R member 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 4804300 (on Assembly GRCh38)
• Chr11: 4825530 (on Assembly GRCh37)

Preferred name:

NM_001005177.3(OR52R1):c.81G>C (p.Gln27His)

HGVS:

• NC_000011.10:g.4804300C>G
• NM_001005177.3:c.81G>CMANE SELECT
• NM_001384608.1:c.-153+36959C>G
• NM_021801.5:c.-145+36959C>GMANE SELECT
• NP_001005177.3:p.Gln27His
• NC_000011.9:g.4825530C>G

This HGVS expression did not pass validation

Protein change:

Q27H

Molecular consequence:

• NM_001384608.1:c.-153+36959C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_021801.5:c.-145+36959C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001005177.3:c.81G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1