ClinVar

NM_002755.4(MAP2K1):c.1146C>T (p.Asn382=)

Genes:

MAP2K1:mitogen-activated protein kinase kinase 1 [Gene - OMIM - HGNC]
SNAPC5:small nuclear RNA activating complex polypeptide 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.31

Genomic location:

• Chr15: 66490579 (on Assembly GRCh38)
• Chr15: 66782917 (on Assembly GRCh37)

Preferred name:

NM_002755.4(MAP2K1):c.1146C>T (p.Asn382=)

HGVS:

• NC_000015.10:g.66490579C>T
• NG_008305.1:g.108707C>T
• NG_051234.1:g.12237G>A
• NM_001411065.1:c.1002C>T
• NM_002755.4:c.1146C>TMANE SELECT
• NM_006049.4:c.*160G>A
• NP_001397994.1:p.Asn334=
• NP_002746.1:p.Asn382=
• NP_002746.1:p.Asn382=
• LRG_725t1:c.1146C>T
• LRG_725:g.108707C>T
• LRG_725p1:p.Asn382=
• NC_000015.9:g.66782917C>T
• NM_002755.3:c.1146C>T
• NR_138061.2:n.626G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2140687038

NCBI 1000 Genomes Browser:

rs2140687038

Molecular consequence:

• NM_006049.4:c.*160G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_138061.2:n.626G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001411065.1:c.1002C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002755.4:c.1146C>T - synonymous variant - [Sequence Ontology: SO:0001819]