ClinVar

NM_001164664.2(MAST4):c.1360C>T (p.His454Tyr)

Gene:

MAST4:microtubule associated serine/threonine kinase family member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q12.3

Genomic location:

• Chr5: 67110101 (on Assembly GRCh38)
• Chr5: 66405929 (on Assembly GRCh37)

Preferred name:

NM_001164664.2(MAST4):c.1360C>T (p.His454Tyr)

HGVS:

• NC_000005.10:g.67110101C>T
• NG_034036.1:g.518754C>T
• NM_001164664.2:c.1360C>TMANE SELECT
• NM_001290226.2:c.742C>T
• NM_001290227.2:c.778C>T
• NM_001297651.2:c.778C>T
• NM_001393524.1:c.1369C>T
• NM_001393525.1:c.1360C>T
• NM_001393526.1:c.793C>T
• NM_001393527.1:c.778C>T
• NM_001393528.1:c.757C>T
• NM_015183.3:c.793C>T
• NP_001158136.1:p.His454Tyr
• NP_001277155.1:p.His248Tyr
• NP_001277156.1:p.His260Tyr
• NP_001284580.1:p.His260Tyr
• NP_001380453.1:p.His457Tyr
• NP_001380454.1:p.His454Tyr
• NP_001380455.1:p.His265Tyr
• NP_001380456.1:p.His260Tyr
• NP_001380457.1:p.His253Tyr
• NP_055998.1:p.His265Tyr
• NC_000005.9:g.66405929C>T
• NM_015183.2:c.793C>T

This HGVS expression did not pass validation

Protein change:

H248Y

Molecular consequence:

• NM_001164664.2:c.1360C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290226.2:c.742C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290227.2:c.778C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297651.2:c.778C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393524.1:c.1369C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393525.1:c.1360C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393526.1:c.793C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393527.1:c.778C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393528.1:c.757C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015183.3:c.793C>T - missense variant - [Sequence Ontology: SO:0001583]