ClinVar

NM_000370.3(TTPA):c.359-9T>A

Gene:

TTPA:alpha tocopherol transfer protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.3

Genomic location:

• Chr8: 63066106 (on Assembly GRCh38)
• Chr8: 63978665 (on Assembly GRCh37)

Preferred name:

NM_000370.3(TTPA):c.359-9T>A

HGVS:

• NC_000008.11:g.63066106A>T
• NG_016123.1:g.24948T>A
• NM_000370.3:c.359-9T>AMANE SELECT
• NM_001413414.1:c.205-1790T>A
• NM_001413415.1:c.359-4681T>A
• NM_001413416.1:c.359-9T>A
• NM_001413417.1:c.205-4681T>A
• NM_001413418.1:c.476-9T>A
• NC_000008.10:g.63978665A>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000370.3:c.359-9T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001413414.1:c.205-1790T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001413415.1:c.359-4681T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001413416.1:c.359-9T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001413417.1:c.205-4681T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001413418.1:c.476-9T>A - intron variant - [Sequence Ontology: SO:0001627]