ClinVar

NM_001015877.2(PHF6):c.139-11_139-7del

Gene:

PHF6:PHD finger protein 6 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq26.2

Genomic location:

• ChrX: 134377991 - 134377995 (on Assembly GRCh38)
• ChrX: 133512021 - 133512025 (on Assembly GRCh37)

Preferred name:

NM_001015877.2(PHF6):c.139-11_139-7del

HGVS:

• NC_000023.11:g.134377994_134377998del
• NG_008886.1:g.9683_9687del
• NM_001015877.2:c.139-11_139-7delMANE SELECT
• NM_032335.3:c.139-11_139-7del
• NM_032458.3:c.139-11_139-7del
• LRG_629t2:c.139-11_139-7del
• LRG_629:g.9683_9687del
• NC_000023.10:g.133512021_133512025del
• NC_000023.10:g.133512024_133512028del
• NM_032458.2:c.139-11_139-7del
• NM_032458.2:c.139-11_139-7delGTAAT

This HGVS expression did not pass validation

Links:

dbSNP: rs781657256

NCBI 1000 Genomes Browser:

rs781657256

Molecular consequence:

• NM_001015877.2:c.139-11_139-7del - intron variant - [Sequence Ontology: SO:0001627]
• NM_032335.3:c.139-11_139-7del - intron variant - [Sequence Ontology: SO:0001627]
• NM_032458.3:c.139-11_139-7del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1