ClinVar

NM_153485.3(NUP155):c.2629-5_2629-3del

Gene:

NUP155:nucleoporin 155 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

5p13.2

Genomic location:

• Chr5: 37309270 - 37309272 (on Assembly GRCh38)
• Chr5: 37309372 - 37309374 (on Assembly GRCh37)

Preferred name:

NM_153485.3(NUP155):c.2629-5_2629-3del

HGVS:

• NC_000005.10:g.37309270AGA[1]
• NG_034131.1:g.66852TCT[1]
• NM_001278312.2:c.2437-5_2437-3del
• NM_004298.4:c.2452-5_2452-3del
• NM_153485.3:c.2629-5_2629-3delMANE SELECT
• NC_000005.9:g.37309372AGA[1]

This HGVS expression did not pass validation

Links:

dbSNP: rs3835198

NCBI 1000 Genomes Browser:

rs3835198

Molecular consequence:

• NM_001278312.2:c.2437-5_2437-3del - intron variant - [Sequence Ontology: SO:0001627]
• NM_004298.4:c.2452-5_2452-3del - intron variant - [Sequence Ontology: SO:0001627]
• NM_153485.3:c.2629-5_2629-3del - intron variant - [Sequence Ontology: SO:0001627]