ClinVar

NM_138425.3(C12orf57):c.-263C>T

Genes:

RNU7-1:RNA, U7 small nuclear 1 [Gene - OMIM - HGNC]
C12orf57:chromosome 12 open reading frame 57 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 6943859 (on Assembly GRCh38)
• Chr12: 7053022 (on Assembly GRCh37)

Preferred name:

NM_138425.3(C12orf57):c.-263C>T

HGVS:

• NC_000012.12:g.6943859C>T
• NG_008047.1:g.24397C>T
• NG_008047.2:g.24402C>T
• NG_034262.1:g.5043C>T
• NG_125067.2:g.130C>T
• NM_001301834.1:c.-16+197C>T
• NM_001301836.2:c.13+197C>T
• NM_001301837.1:c.-263C>T
• NM_001301838.1:c.-464C>T
• NM_138425.3:c.-263C>T
• NC_000012.11:g.7053022C>T
• NG_125067.1:g.130C>T
• NR_023317.1:n.44C>T
• NR_126035.1:n.43C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs7965269

NCBI 1000 Genomes Browser:

rs7965269

Molecular consequence:

• NM_001301834.1:c.-16+197C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301836.2:c.13+197C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_023317.1:n.44C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

58