ClinVar

NM_001370465.2(DUSP28):c.356T>A (p.Met119Lys)

Genes:

ANKMY1:ankyrin repeat and MYND domain containing 1 [Gene - OMIM - HGNC]
LOC106783501:conserved acetylation island sequence C08 enhancer [Gene]
DUSP28:dual specificity phosphatase 28 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 240561040 (on Assembly GRCh38)
• Chr2: 241500457 (on Assembly GRCh37)

Preferred name:

NM_001370465.2(DUSP28):c.356T>A (p.Met119Lys)

HGVS:

• NC_000002.12:g.240561040T>A
• NG_046084.1:g.199T>A
• NG_168985.1:g.25T>A
• NM_001033575.1:c.356T>A
• NM_001308375.4:c.-90A>T
• NM_001354023.2:c.-643A>T
• NM_001354024.2:c.-431A>T
• NM_001354026.2:c.-431A>T
• NM_001370465.2:c.356T>AMANE SELECT
• NM_001393464.1:c.1A>T
• NM_001393471.1:c.1A>T
• NM_001393481.1:c.1A>T
• NP_001028747.1:p.Met119Lys
• NP_001357394.1:p.Met119Lys
• NP_001380393.1:p.Met1Leu
• NP_001380400.1:p.Met1Leu
• NP_001380410.1:p.Met1Leu
• NC_000002.11:g.241500457T>A
• NR_148696.2:n.25A>T
• NR_148697.2:n.25A>T
• NR_148698.1:n.71A>T

This HGVS expression did not pass validation

Protein change:

M119K

Molecular consequence:

• NM_001308375.4:c.-90A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001393464.1:c.1A>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001393471.1:c.1A>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001393481.1:c.1A>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001033575.1:c.356T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370465.2:c.356T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393464.1:c.1A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393471.1:c.1A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393481.1:c.1A>T - missense variant - [Sequence Ontology: SO:0001583]