ClinVar

NM_007374.3(SIX6):c.-64C>T

Genes:

SIX6:SIX homeobox 6 [Gene - OMIM - HGNC]
C14orf39:chromosome 14 open reading frame 39 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q23.1

Genomic location:

• Chr14: 60509335 (on Assembly GRCh38)
• Chr14: 60976053 (on Assembly GRCh37)

Preferred name:

NM_007374.3(SIX6):c.-64C>T

HGVS:

• NC_000014.9:g.60509335C>T
• NG_008203.1:g.5116C>T
• NM_007374.3:c.-64C>TMANE SELECT
• NC_000014.8:g.60976053C>T
• NM_007374.2:c.-64C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs148591528

NCBI 1000 Genomes Browser:

rs148591528

Molecular consequence:

• NM_007374.3:c.-64C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]