ClinVar

NM_002755.4(MAP2K1):c.648C>T (p.Ile216=)

Gene:

MAP2K1:mitogen-activated protein kinase kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.31

Genomic location:

• Chr15: 66481834 (on Assembly GRCh38)
• Chr15: 66774172 (on Assembly GRCh37)

Preferred name:

NM_002755.4(MAP2K1):c.648C>T (p.Ile216=)

Other names:

NM_002755.3(MAP2K1):c.648C>T

HGVS:

• NC_000015.10:g.66481834C>T
• NG_008305.1:g.99962C>T
• NM_002755.4:c.648C>TMANE SELECT
• NP_002746.1:p.Ile216=
• NP_002746.1:p.Ile216=
• LRG_725t1:c.648C>T
• LRG_725:g.99962C>T
• LRG_725p1:p.Ile216=
• NC_000015.9:g.66774172C>T
• NM_002755.3:c.648C>T
• c.648C>T
• p.Ile216Ile

This HGVS expression did not pass validation

Links:

dbSNP: rs148968935

NCBI 1000 Genomes Browser:

rs148968935

Molecular consequence:

• NM_002755.4:c.648C>T - synonymous variant - [Sequence Ontology: SO:0001819]