ClinVar

NM_014738.6(TMEM94):c.2386C>T (p.Arg796Cys)

Gene:

TMEM94:transmembrane protein 94 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

• Chr17: 75493895 (on Assembly GRCh38)
• Chr17: 73489976 (on Assembly GRCh37)

Preferred name:

NM_014738.6(TMEM94):c.2386C>T (p.Arg796Cys)

HGVS:

• NC_000017.11:g.75493895C>T
• NG_054884.1:g.57737C>T
• NM_001321148.2:c.2416C>T
• NM_001321149.2:c.2398C>T
• NM_001351202.2:c.2338C>T
• NM_001351203.2:c.2416C>T
• NM_014738.6:c.2386C>TMANE SELECT
• NP_001308077.1:p.Arg806Cys
• NP_001308078.1:p.Arg800Cys
• NP_001338131.1:p.Arg780Cys
• NP_001338132.1:p.Arg806Cys
• NP_055553.3:p.Arg796Cys
• NC_000017.10:g.73489976C>T

This HGVS expression did not pass validation

Protein change:

R780C

Links:

dbSNP: rs375448719

NCBI 1000 Genomes Browser:

rs375448719

Molecular consequence:

• NM_001321148.2:c.2416C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321149.2:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351202.2:c.2338C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351203.2:c.2416C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014738.6:c.2386C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1