ClinVar

NM_133433.4(NIPBL):c.5249A>G (p.Tyr1750Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.2

Genomic location:

• Chr5: 37020798 (on Assembly GRCh38)
• Chr5: 37020900 (on Assembly GRCh37)

Preferred name:

NM_133433.4(NIPBL):c.5249A>G (p.Tyr1750Cys)

HGVS:

• NC_000005.10:g.37020798A>G
• NG_006987.2:g.148916A>G
• NM_015384.5:c.5249A>G
• NM_133433.4:c.5249A>GMANE SELECT
• NP_056199.2:p.Tyr1750Cys
• NP_597677.2:p.Tyr1750Cys
• NC_000005.9:g.37020900A>G
• NG_006987.1:g.148916A>G

This HGVS expression did not pass validation

Protein change:

Y1750C

Links:

dbSNP: rs374265736

NCBI 1000 Genomes Browser:

rs374265736

Molecular consequence:

• NM_015384.5:c.5249A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_133433.4:c.5249A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2