ClinVar

NM_001023570.4(IQCB1):c.264-2A>T

Gene:

IQCB1:IQ motif containing B1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.33

Genomic location:

• Chr3: 121826182 (on Assembly GRCh38)
• Chr3: 121545029 (on Assembly GRCh37)

Preferred name:

NM_001023570.4(IQCB1):c.264-2A>T

HGVS:

• NC_000003.12:g.121826182T>A
• NG_015887.1:g.13898A>T
• NM_001023570.4:c.264-2A>TMANE SELECT
• NM_001023571.4:c.264-2A>T
• NM_001319107.2:c.264-2A>T
• NC_000003.11:g.121545029T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs727503969

NCBI 1000 Genomes Browser:

rs727503969

Molecular consequence:

• NM_001023570.4:c.264-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001023571.4:c.264-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001319107.2:c.264-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

2