ClinVar

NM_000278.5(PAX2):c.44-280C>T

Gene:

PAX2:paired box 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.31

Genomic location:

• Chr10: 100749466 (on Assembly GRCh38)
• Chr10: 102509223 (on Assembly GRCh37)

Preferred name:

NM_000278.5(PAX2):c.44-280C>T

HGVS:

• NC_000010.11:g.100749466C>T
• NG_008680.2:g.18758C>T
• NM_000278.5:c.44-280C>TMANE SELECT
• NM_001304569.2:c.137-280C>T
• NM_003987.5:c.44-280C>T
• NM_003988.5:c.44-280C>T
• NM_003989.5:c.44-280C>T
• NM_003990.5:c.44-280C>T
• NC_000010.10:g.102509223C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs183518335

NCBI 1000 Genomes Browser:

rs183518335

Molecular consequence:

• NM_000278.5:c.44-280C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001304569.2:c.137-280C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003987.5:c.44-280C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003988.5:c.44-280C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003989.5:c.44-280C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003990.5:c.44-280C>T - intron variant - [Sequence Ontology: SO:0001627]