ClinVar

NM_001256317.3(TMPRSS3):c.783-16G>A

Gene:

TMPRSS3:transmembrane serine protease 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 42382250 (on Assembly GRCh38)
• Chr21: 43802359 (on Assembly GRCh37)

Preferred name:

NM_001256317.3(TMPRSS3):c.783-16G>A

HGVS:

• NC_000021.9:g.42382250C>T
• NG_011629.2:g.18842G>A
• NM_001256317.3:c.783-16G>AMANE SELECT
• NM_024022.4:c.783-16G>A
• NM_032404.3:c.402-16G>A
• NM_032405.2:c.783-16G>A
• NC_000021.8:g.43802359C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001256317.3:c.783-16G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_024022.4:c.783-16G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_032404.3:c.402-16G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_032405.2:c.783-16G>A - intron variant - [Sequence Ontology: SO:0001627]