ClinVar

NM_153485.3(NUP155):c.1094-158G>A

Gene:

NUP155:nucleoporin 155 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.2

Genomic location:

• Chr5: 37341400 (on Assembly GRCh38)
• Chr5: 37341502 (on Assembly GRCh37)

Preferred name:

NM_153485.3(NUP155):c.1094-158G>A

HGVS:

• NC_000005.10:g.37341400C>T
• NG_034131.1:g.34727G>A
• NM_001278312.2:c.1094-158G>A
• NM_004298.4:c.917-158G>A
• NM_153485.3:c.1094-158G>AMANE SELECT
• NC_000005.9:g.37341502C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs76297010

NCBI 1000 Genomes Browser:

rs76297010

Molecular consequence:

• NM_001278312.2:c.1094-158G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_004298.4:c.917-158G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_153485.3:c.1094-158G>A - intron variant - [Sequence Ontology: SO:0001627]