ClinVar

NM_000370.3(TTPA):c.204+20G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.3

Genomic location:

• Chr8: 63085798 (on Assembly GRCh38)
• Chr8: 63998357 (on Assembly GRCh37)

Preferred name:

NM_000370.3(TTPA):c.204+20G>T

HGVS:

• NC_000008.11:g.63085798C>A
• NG_016123.1:g.5256G>T
• NM_000370.3:c.204+20G>TMANE SELECT
• NM_001413414.1:c.204+20G>T
• NM_001413415.1:c.204+20G>T
• NM_001413416.1:c.204+20G>T
• NM_001413417.1:c.204+20G>T
• NM_001413418.1:c.204+20G>T
• NC_000008.10:g.63998357C>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000370.3:c.204+20G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001413414.1:c.204+20G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001413415.1:c.204+20G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001413416.1:c.204+20G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001413417.1:c.204+20G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001413418.1:c.204+20G>T - intron variant - [Sequence Ontology: SO:0001627]