ClinVar

NM_005378.6(MYCN):c.888A>T (p.Thr296=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p24.3

Genomic location:

• Chr2: 15945590 (on Assembly GRCh38)
• Chr2: 16085712 (on Assembly GRCh37)

Preferred name:

NM_005378.6(MYCN):c.888A>T (p.Thr296=)

HGVS:

• NC_000002.12:g.15945590A>T
• NG_007457.1:g.10030A>T
• NG_007457.2:g.10042A>T
• NM_001293228.2:c.888A>T
• NM_001293231.2:c.255A>T
• NM_001293233.2:c.*823A>T
• NM_005378.6:c.888A>TMANE SELECT
• NP_001280157.1:p.Thr296=
• NP_001280160.1:p.Thr85=
• NP_005369.2:p.Thr296=
• NC_000002.11:g.16085712A>T
• NM_005378.5:c.888A>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001293233.2:c.*823A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001293228.2:c.888A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001293231.2:c.255A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005378.6:c.888A>T - synonymous variant - [Sequence Ontology: SO:0001819]