ClinVar

NM_145331.3(MAP3K7):c.1485C>T (p.Ser495=)

Gene:

MAP3K7:mitogen-activated protein kinase kinase kinase 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q15

Genomic location:

• Chr6: 90519297 (on Assembly GRCh38)
• Chr6: 91229016 (on Assembly GRCh37)

Preferred name:

NM_145331.3(MAP3K7):c.1485C>T (p.Ser495=)

HGVS:

• NC_000006.12:g.90519297G>A
• NG_011966.2:g.72892C>T
• NM_003188.4:c.1404C>T
• NM_145331.3:c.1485C>TMANE SELECT
• NM_145332.3:c.1485C>T
• NM_145333.3:c.1404C>T
• NP_003179.1:p.Ser468=
• NP_663304.1:p.Ser495=
• NP_663305.1:p.Ser495=
• NP_663306.1:p.Ser468=
• NC_000006.11:g.91229016G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1194974363

NCBI 1000 Genomes Browser:

rs1194974363

Molecular consequence:

• NM_003188.4:c.1404C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_145331.3:c.1485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_145332.3:c.1485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_145333.3:c.1404C>T - synonymous variant - [Sequence Ontology: SO:0001819]