ClinVar

NM_001378414.1(HDAC4):c.1649C>T (p.Pro550Leu)

Gene:

HDAC4:histone deacetylase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 239115195 (on Assembly GRCh38)
• Chr2: 240036891 (on Assembly GRCh37)

Preferred name:

NM_001378414.1(HDAC4):c.1649C>T (p.Pro550Leu)

HGVS:

• NC_000002.12:g.239115195G>A
• NG_009235.1:g.290753C>T
• NM_001378414.1:c.1649C>TMANE SELECT
• NM_001378415.1:c.1649C>T
• NM_001378416.1:c.1634C>T
• NM_001378417.1:c.1634C>T
• NM_006037.4:c.1634C>T
• NP_001365343.1:p.Pro550Leu
• NP_001365344.1:p.Pro550Leu
• NP_001365345.1:p.Pro545Leu
• NP_001365346.1:p.Pro545Leu
• NP_006028.2:p.Pro545Leu
• NC_000002.11:g.240036891G>A
• NM_006037.3:c.1634C>T

This HGVS expression did not pass validation

Protein change:

P545L

Links:

dbSNP: rs151167488

NCBI 1000 Genomes Browser:

rs151167488

Molecular consequence:

• NM_001378414.1:c.1649C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378415.1:c.1649C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378416.1:c.1634C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378417.1:c.1634C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006037.4:c.1634C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1