ClinVar

NM_133433.4(NIPBL):c.2703T>C (p.Asn901=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.2

Genomic location:

• Chr5: 36985883 (on Assembly GRCh38)
• Chr5: 36985985 (on Assembly GRCh37)

Preferred name:

NM_133433.4(NIPBL):c.2703T>C (p.Asn901=)

HGVS:

• NC_000005.10:g.36985883T>C
• NG_006987.2:g.114001T>C
• NM_015384.5:c.2703T>C
• NM_133433.4:c.2703T>CMANE SELECT
• NP_056199.2:p.Asn901=
• NP_597677.2:p.Asn901=
• NC_000005.9:g.36985985T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs774346043

NCBI 1000 Genomes Browser:

rs774346043

Molecular consequence:

• NM_015384.5:c.2703T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133433.4:c.2703T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1