ClinVar

NM_145254.3(TMEM170A):c.248C>A (p.Ser83Tyr)

Gene:

TMEM170A:transmembrane protein 170A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q23.1

Genomic location:

• Chr16: 75451725 (on Assembly GRCh38)
• Chr16: 75485623 (on Assembly GRCh37)

Preferred name:

NM_145254.3(TMEM170A):c.248C>A (p.Ser83Tyr)

HGVS:

• NC_000016.10:g.75451725G>T
• NM_001304996.2:c.235+13C>A
• NM_001304997.2:c.134C>A
• NM_001304998.1:c.100+13C>A
• NM_145254.3:c.248C>AMANE SELECT
• NP_001291926.1:p.Ser45Tyr
• NP_660297.1:p.Ser83Tyr
• NC_000016.9:g.75485623G>T
• NM_145254.1:c.248C>A

This HGVS expression did not pass validation

Protein change:

S45Y

Molecular consequence:

• NM_001304996.2:c.235+13C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001304998.1:c.100+13C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001304997.2:c.134C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_145254.3:c.248C>A - missense variant - [Sequence Ontology: SO:0001583]