ClinVar

NM_000306.4(POU1F1):c.666-5G>A

Genes:

CHMP2B:charged multivesicular body protein 2B [Gene - OMIM - HGNC]
POU1F1:POU class 1 homeobox 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p11.2

Genomic location:

• Chr3: 87260109 (on Assembly GRCh38)
• Chr3: 87309259 (on Assembly GRCh37)

Preferred name:

NM_000306.4(POU1F1):c.666-5G>A

HGVS:

• NC_000003.12:g.87260109C>T
• NG_008225.2:g.21479G>A
• NM_000306.4:c.666-5G>AMANE SELECT
• NM_001122757.3:c.744-5G>A
• NC_000003.11:g.87309259C>T
• NM_000306.2:c.666-5G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs76296626

NCBI 1000 Genomes Browser:

rs76296626

Molecular consequence:

• NM_000306.4:c.666-5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001122757.3:c.744-5G>A - intron variant - [Sequence Ontology: SO:0001627]