ClinVar

NM_032813.5(TMTC4):c.1268G>A (p.Arg423Gln)

Gene:

TMTC4:transmembrane O-mannosyltransferase targeting cadherins 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q32.3

Genomic location:

• Chr13: 100635130 (on Assembly GRCh38)
• Chr13: 101287384 (on Assembly GRCh37)

Preferred name:

NM_032813.5(TMTC4):c.1268G>A (p.Arg423Gln)

HGVS:

• NC_000013.11:g.100635130C>T
• NG_053145.1:g.44964G>A
• NM_001079669.4:c.1211G>A
• NM_001286453.3:c.878G>A
• NM_001350571.2:c.1442G>A
• NM_001350572.2:c.1211G>A
• NM_001350574.2:c.1385G>A
• NM_001350576.2:c.1262G>A
• NM_001350577.2:c.1205G>A
• NM_032813.5:c.1268G>AMANE SELECT
• NP_001073137.1:p.Arg404Gln
• NP_001273382.1:p.Arg293Gln
• NP_001337500.1:p.Arg481Gln
• NP_001337501.1:p.Arg404Gln
• NP_001337503.1:p.Arg462Gln
• NP_001337505.1:p.Arg421Gln
• NP_001337506.1:p.Arg402Gln
• NP_116202.2:p.Arg423Gln
• NC_000013.10:g.101287384C>T
• NM_032813.2:c.1268G>A
• NR_146794.2:n.1317G>A

This HGVS expression did not pass validation

Protein change:

R293Q

Molecular consequence:

• NM_001079669.4:c.1211G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286453.3:c.878G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350571.2:c.1442G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350572.2:c.1211G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350574.2:c.1385G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350576.2:c.1262G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350577.2:c.1205G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032813.5:c.1268G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_146794.2:n.1317G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]