ClinVar

NM_133433.4(NIPBL):c.200A>G (p.His67Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.2

Genomic location:

• Chr5: 36955607 (on Assembly GRCh38)
• Chr5: 36955709 (on Assembly GRCh37)

Preferred name:

NM_133433.4(NIPBL):c.200A>G (p.His67Arg)

HGVS:

• NC_000005.10:g.36955607A>G
• NG_006987.2:g.83725A>G
• NM_015384.5:c.200A>G
• NM_133433.4:c.200A>GMANE SELECT
• NP_056199.2:p.His67Arg
• NP_597677.2:p.His67Arg
• NC_000005.9:g.36955709A>G

This HGVS expression did not pass validation

Protein change:

H67R

Links:

dbSNP: rs1388552505

NCBI 1000 Genomes Browser:

rs1388552505

Molecular consequence:

• NM_015384.5:c.200A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_133433.4:c.200A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1