ClinVar

NM_001395413.1(POR):c.1239+28C>T

Gene:

POR:cytochrome p450 oxidoreductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.23

Genomic location:

• Chr7: 75984986 (on Assembly GRCh38)
• Chr7: 75614304 (on Assembly GRCh37)

Preferred name:

NM_001395413.1(POR):c.1239+28C>T

HGVS:

• NC_000007.14:g.75984986C>T
• NG_008930.1:g.74885C>T
• NM_001367562.3:c.1239+28C>T
• NM_001382655.3:c.1293+28C>T
• NM_001382657.2:c.1239+28C>T
• NM_001382658.3:c.1239+28C>T
• NM_001382659.3:c.1239+28C>T
• NM_001382662.3:c.1239+28C>T
• NM_001395413.1:c.1239+28C>TMANE SELECT
• NC_000007.13:g.75614304C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs72557932

NCBI 1000 Genomes Browser:

rs72557932

Molecular consequence:

• NM_001367562.3:c.1239+28C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382655.3:c.1293+28C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382657.2:c.1239+28C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382658.3:c.1239+28C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382659.3:c.1239+28C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382662.3:c.1239+28C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001395413.1:c.1239+28C>T - intron variant - [Sequence Ontology: SO:0001627]