ClinVar

NM_005922.4(MAP3K4):c.3009T>A (p.Asn1003Lys)

Gene:

MAP3K4:mitogen-activated protein kinase kinase kinase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q26

Genomic location:

• Chr6: 161091414 (on Assembly GRCh38)
• Chr6: 161512446 (on Assembly GRCh37)

Preferred name:

NM_005922.4(MAP3K4):c.3009T>A (p.Asn1003Lys)

HGVS:

• NC_000006.12:g.161091414T>A
• NM_001291958.2:c.1368T>A
• NM_001301072.2:c.3009T>A
• NM_001363582.2:c.3009T>A
• NM_005922.4:c.3009T>AMANE SELECT
• NM_006724.4:c.3009T>A
• NP_001278887.1:p.Asn456Lys
• NP_001288001.2:p.Asn1003Lys
• NP_001350511.2:p.Asn1003Lys
• NP_005913.3:p.Asn1003Lys
• NP_006715.3:p.Asn1003Lys
• NC_000006.11:g.161512446T>A
• NM_005922.3:c.3009T>A
• NR_120425.2:n.3172T>A

This HGVS expression did not pass validation

Protein change:

N1003K

Links:

dbSNP: rs55704622

NCBI 1000 Genomes Browser:

rs55704622

Molecular consequence:

• NM_001291958.2:c.1368T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001301072.2:c.3009T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363582.2:c.3009T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005922.4:c.3009T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006724.4:c.3009T>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_120425.2:n.3172T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]