ClinVar

NM_133433.4(NIPBL):c.2T>A (p.Met1Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.2

Genomic location:

• Chr5: 36953698 (on Assembly GRCh38)
• Chr5: 36953800 (on Assembly GRCh37)

Preferred name:

NM_133433.4(NIPBL):c.2T>A (p.Met1Lys)

HGVS:

• NC_000005.10:g.36953698T>A
• NG_006987.2:g.81816T>A
• NM_015384.5:c.2T>A
• NM_133433.4:c.2T>AMANE SELECT
• NP_056199.2:p.Met1Lys
• NP_597677.2:p.Met1Lys
• NC_000005.9:g.36953800T>A
• NG_006987.1:g.81816T>A
• NM_133433.3:c.2T>A

This HGVS expression did not pass validation

Protein change:

M1K; MET1LYS

Links:

OMIM: 608667.0001; dbSNP: rs121918264

NCBI 1000 Genomes Browser:

rs121918264

Molecular consequence:

• NM_015384.5:c.2T>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_133433.4:c.2T>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_015384.5:c.2T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133433.4:c.2T>A - missense variant - [Sequence Ontology: SO:0001583]