ClinVar

NM_020401.4(NUP107):c.449-145T>C

Gene:

NUP107:nucleoporin 107 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q15

Genomic location:

• Chr12: 68696674 (on Assembly GRCh38)
• Chr12: 69090454 (on Assembly GRCh37)

Preferred name:

NM_020401.4(NUP107):c.449-145T>C

HGVS:

• NC_000012.12:g.68696674T>C
• NG_046600.2:g.14724T>C
• NM_001330192.2:c.362-145T>C
• NM_020401.4:c.449-145T>CMANE SELECT
• NC_000012.11:g.69090454T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs151148882

NCBI 1000 Genomes Browser:

rs151148882

Molecular consequence:

• NM_001330192.2:c.362-145T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_020401.4:c.449-145T>C - intron variant - [Sequence Ontology: SO:0001627]