ClinVar

NM_000466.3(PEX1):c.2927-6C>T

Genes:

GATAD1:GATA zinc finger domain containing 1 [Gene - OMIM - HGNC]
PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.2

Genomic location:

• Chr7: 92494402 (on Assembly GRCh38)
• Chr7: 92123716 (on Assembly GRCh37)

Preferred name:

NM_000466.3(PEX1):c.2927-6C>T

HGVS:

• NC_000007.14:g.92494402G>A
• NG_008341.2:g.39130C>T
• NM_000466.2:c.2927-6C>T
• NM_000466.3:c.2927-6C>TMANE SELECT
• NM_001282677.2:c.2756-6C>T
• NM_001282678.2:c.2303-6C>T
• NC_000007.13:g.92123716G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs770779494

NCBI 1000 Genomes Browser:

rs770779494

Molecular consequence:

• NM_000466.3:c.2927-6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282677.2:c.2756-6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282678.2:c.2303-6C>T - intron variant - [Sequence Ontology: SO:0001627]