ClinVar

NM_001242957.3(MAK):c.*728C>T

Gene:

MAK:male germ cell associated kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.2

Genomic location:

• Chr6: 10763724 (on Assembly GRCh38)
• Chr6: 10763957 (on Assembly GRCh37)

Preferred name:

NM_001242957.3(MAK):c.*728C>T

HGVS:

• NC_000006.12:g.10763724G>A
• NG_030040.1:g.79832C>T
• NM_001242385.2:c.*728C>T
• NM_001242957.3:c.*728C>TMANE SELECT
• NM_001377262.1:c.*728C>T
• NM_005906.6:c.*728C>T
• NC_000006.11:g.10763957G>A
• NM_001242957.1:c.*728C>T
• NR_134935.2:n.2971C>T
• NR_134936.2:n.3199C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs886060927

NCBI 1000 Genomes Browser:

rs886060927

Molecular consequence:

• NM_001242385.2:c.*728C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001242957.3:c.*728C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001377262.1:c.*728C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_005906.6:c.*728C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_134935.2:n.2971C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_134936.2:n.3199C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]