ClinVar

NM_002467.6(MYC):c.230C>T (p.Ser77Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.21

Genomic location:

• Chr8: 127738447 (on Assembly GRCh38)
• Chr8: 128750693 (on Assembly GRCh37)

Preferred name:

NM_002467.6(MYC):c.230C>T (p.Ser77Phe)

HGVS:

• NC_000008.11:g.127738447C>T
• NG_007161.2:g.8014C>T
• NM_001354870.1:c.227C>T
• NM_002467.6:c.230C>TMANE SELECT
• NP_001341799.1:p.Ser76Phe
• NP_002458.2:p.Ser77Phe
• LRG_1397t1:c.230C>T
• LRG_1397:g.8014C>T
• LRG_1397p1:p.Ser77Phe
• NC_000008.10:g.128750693C>T

This HGVS expression did not pass validation

Protein change:

S76F

Links:

dbSNP: rs1057519850

NCBI 1000 Genomes Browser:

rs1057519850

Molecular consequence:

• NM_001354870.1:c.227C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002467.6:c.230C>T - missense variant - [Sequence Ontology: SO:0001583]