ClinVar

NM_138425.4(C12orf57):c.15G>T (p.Ser5=)

Gene:

C12orf57:chromosome 12 open reading frame 57 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 6944136 (on Assembly GRCh38)
• Chr12: 7053299 (on Assembly GRCh37)

Preferred name:

NM_138425.4(C12orf57):c.15G>T (p.Ser5=)

HGVS:

• NC_000012.12:g.6944136G>T
• NG_008047.1:g.24674G>T
• NG_034262.1:g.5320G>T
• NM_001301834.1:c.15G>T
• NM_001301836.2:c.14-340G>T
• NM_001301837.2:c.15G>T
• NM_001301838.2:c.-187G>T
• NM_138425.4:c.15G>TMANE SELECT
• NP_001288763.1:p.Ser5=
• NP_001288766.1:p.Ser5=
• NP_612434.1:p.Ser5=
• NC_000012.11:g.7053299G>T
• NR_126035.2:n.115G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs144652065

NCBI 1000 Genomes Browser:

rs144652065

Molecular consequence:

• NM_001301838.2:c.-187G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001301836.2:c.14-340G>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_126035.2:n.115G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001301834.1:c.15G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001301837.2:c.15G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_138425.4:c.15G>T - synonymous variant - [Sequence Ontology: SO:0001819]