ClinVar

NM_005378.6(MYCN):c.131C>T (p.Pro44Leu)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p24.3

Genomic location:

• Chr2: 15942195 (on Assembly GRCh38)
• Chr2: 16082317 (on Assembly GRCh37)

Preferred name:

NM_005378.6(MYCN):c.131C>T (p.Pro44Leu)

HGVS:

• NC_000002.12:g.15942195C>T
• NG_007457.1:g.6635C>T
• NM_001293228.2:c.131C>T
• NM_001293231.2:c.157+1452C>T
• NM_001293233.2:c.*66C>T
• NM_005378.6:c.131C>TMANE SELECT
• NP_001280157.1:p.Pro44Leu
• NP_005369.2:p.Pro44Leu
• NC_000002.11:g.16082317C>T
• NR_161163.1:n.239G>A

This HGVS expression did not pass validation

Protein change:

P44L

Links:

dbSNP: rs1057519919

NCBI 1000 Genomes Browser:

rs1057519919

Molecular consequence:

• NM_001293233.2:c.*66C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001293231.2:c.157+1452C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293228.2:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005378.6:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_161163.1:n.239G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]