ClinVar

NM_001042600.3(MAP4K1):c.2211C>A (p.Ser737=)

Gene:

MAP4K1:mitogen-activated protein kinase kinase kinase kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38595698 (on Assembly GRCh38)
• Chr19: 39086338 (on Assembly GRCh37)

Preferred name:

NM_001042600.3(MAP4K1):c.2211C>A (p.Ser737=)

HGVS:

• NC_000019.10:g.38595698G>T
• NM_001042600.3:c.2211C>AMANE SELECT
• NM_007181.6:c.2211C>A
• NP_001036065.1:p.Ser737=
• NP_009112.1:p.Ser737=
• NC_000019.9:g.39086338G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001042600.3:c.2211C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_007181.6:c.2211C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2