ClinVar

NM_001256317.3(TMPRSS3):c.1180G>C (p.Asp394His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 42376552 (on Assembly GRCh38)
• Chr21: 43796661 (on Assembly GRCh37)

Preferred name:

NM_001256317.3(TMPRSS3):c.1180G>C (p.Asp394His)

HGVS:

• NC_000021.9:g.42376552C>G
• NG_011629.2:g.24540G>C
• NM_001256317.3:c.1180G>CMANE SELECT
• NM_024022.4:c.1183G>C
• NM_032404.3:c.802G>C
• NP_001243246.1:p.Asp394His
• NP_076927.1:p.Asp395His
• NP_115780.1:p.Asp268His
• NC_000021.8:g.43796661C>G
• NM_024022.2:c.1183G>C
• c.1183G>C

This HGVS expression did not pass validation

Protein change:

D268H

Links:

dbSNP: rs111033537

NCBI 1000 Genomes Browser:

rs111033537

Molecular consequence:

• NM_001256317.3:c.1180G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_024022.4:c.1183G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_032404.3:c.802G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1