ClinVar

NM_133433.4(NIPBL):c.6082C>T (p.Gln2028Ter)

Gene:

NIPBL:NIPBL cohesin loading factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.2

Genomic location:

• Chr5: 37038712 (on Assembly GRCh38)
• Chr5: 37038814 (on Assembly GRCh37)

Preferred name:

NM_133433.4(NIPBL):c.6082C>T (p.Gln2028Ter)

HGVS:

• NC_000005.10:g.37038712C>T
• NG_006987.2:g.166830C>T
• NM_015384.5:c.6082C>T
• NM_133433.4:c.6082C>TMANE SELECT
• NP_056199.2:p.Gln2028Ter
• NP_597677.2:p.Gln2028Ter
• NC_000005.9:g.37038814C>T
• NG_006987.1:g.166830C>T

This HGVS expression did not pass validation

Protein change:

Q2028*

Links:

dbSNP: rs886044351

NCBI 1000 Genomes Browser:

rs886044351

Molecular consequence:

• NM_015384.5:c.6082C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133433.4:c.6082C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1