ClinVar

NM_014975.3(MAST1):c.578T>A (p.Met193Lys)

Genes:

LOC117125587:CRISPRi-FlowFISH-validated KLF1 and PRDX2 regulatory element [Gene]
MAST1:microtubule associated serine/threonine kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 12847861 (on Assembly GRCh38)
• Chr19: 12958675 (on Assembly GRCh37)

Preferred name:

NM_014975.3(MAST1):c.578T>A (p.Met193Lys)

HGVS:

• NC_000019.10:g.12847861T>A
• NG_054729.1:g.18931T>A
• NG_068125.1:g.451T>A
• NM_014975.3:c.578T>AMANE SELECT
• NP_055790.1:p.Met193Lys
• NC_000019.9:g.12958675T>A

This HGVS expression did not pass validation

Protein change:

M193K

Links:

dbSNP: rs2145890714

NCBI 1000 Genomes Browser:

rs2145890714

Molecular consequence:

• NM_014975.3:c.578T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1