ClinVar

NM_001267052.2(UNC45B):c.1456C>T (p.Leu486Phe)

Gene:

UNC45B:unc-45 myosin chaperone B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

• Chr17: 35169840 (on Assembly GRCh38)
• Chr17: 33496859 (on Assembly GRCh37)

Preferred name:

NM_001267052.2(UNC45B):c.1456C>T (p.Leu486Phe)

HGVS:

• NC_000017.11:g.35169840C>T
• NG_042129.1:g.27024C>T
• NM_001033576.2:c.1456C>T
• NM_001267052.2:c.1456C>TMANE SELECT
• NM_001308281.1:c.1452+1479C>T
• NM_173167.3:c.1456C>T
• NP_001028748.1:p.Leu486Phe
• NP_001253981.1:p.Leu486Phe
• NP_775259.1:p.Leu486Phe
• NC_000017.10:g.33496859C>T

This HGVS expression did not pass validation

Protein change:

L486F

Links:

dbSNP: rs2142567239

NCBI 1000 Genomes Browser:

rs2142567239

Molecular consequence:

• NM_001308281.1:c.1452+1479C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001033576.2:c.1456C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267052.2:c.1456C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_173167.3:c.1456C>T - missense variant - [Sequence Ontology: SO:0001583]