ClinVar

NM_005378.6(MYCN):c.1009C>A (p.Pro337Thr)

Gene:

MYCN:MYCN proto-oncogene, bHLH transcription factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p24.3

Genomic location:

• Chr2: 15945711 (on Assembly GRCh38)
• Chr2: 16085833 (on Assembly GRCh37)

Preferred name:

NM_005378.6(MYCN):c.1009C>A (p.Pro337Thr)

HGVS:

• NC_000002.12:g.15945711C>A
• NG_007457.1:g.10151C>A
• NG_007457.2:g.10163C>A
• NM_001293228.2:c.1009C>A
• NM_001293231.2:c.376C>A
• NM_001293233.2:c.*944C>A
• NM_005378.6:c.1009C>AMANE SELECT
• NP_001280157.1:p.Pro337Thr
• NP_001280160.1:p.Pro126Thr
• NP_005369.2:p.Pro337Thr
• NC_000002.11:g.16085833C>A

This HGVS expression did not pass validation

Protein change:

P126T

Molecular consequence:

• NM_001293233.2:c.*944C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001293228.2:c.1009C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293231.2:c.376C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005378.6:c.1009C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1