ClinVar

NM_145331.3(MAP3K7):c.1115G>A (p.Arg372His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q15

Genomic location:

• Chr6: 90547353 (on Assembly GRCh38)
• Chr6: 91257072 (on Assembly GRCh37)

Preferred name:

NM_145331.3(MAP3K7):c.1115G>A (p.Arg372His)

HGVS:

• NC_000006.12:g.90547353C>T
• NG_011966.2:g.44836G>A
• NM_003188.4:c.1115G>A
• NM_145331.3:c.1115G>AMANE SELECT
• NM_145332.3:c.1115G>A
• NM_145333.3:c.1115G>A
• NP_003179.1:p.Arg372His
• NP_663304.1:p.Arg372His
• NP_663305.1:p.Arg372His
• NP_663306.1:p.Arg372His
• NC_000006.11:g.91257072C>T

This HGVS expression did not pass validation

Protein change:

R372H

Links:

dbSNP: rs961650989

NCBI 1000 Genomes Browser:

rs961650989

Molecular consequence:

• NM_003188.4:c.1115G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_145331.3:c.1115G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_145332.3:c.1115G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_145333.3:c.1115G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1