ClinVar

NM_052989.3(IFT122):c.740+15G>A

Gene:

IFT122:intraflagellar transport 122 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.3

Genomic location:

• Chr3: 129467081 (on Assembly GRCh38)
• Chr3: 129185924 (on Assembly GRCh37)

Preferred name:

NM_052989.3(IFT122):c.740+15G>A

HGVS:

• NC_000003.12:g.129467081G>A
• NG_023392.1:g.31957G>A
• NM_001280541.2:c.717-2261G>A
• NM_001280545.2:c.290+15G>A
• NM_001280546.2:c.114-2261G>A
• NM_018262.4:c.564-2261G>A
• NM_052985.4:c.893+15G>A
• NM_052989.3:c.740+15G>AMANE SELECT
• NM_052990.3:c.408-2261G>A
• NC_000003.11:g.129185924G>A
• NM_052985.3:c.893+15G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs56379561

NCBI 1000 Genomes Browser:

rs56379561

Molecular consequence:

• NM_001280541.2:c.717-2261G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001280545.2:c.290+15G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001280546.2:c.114-2261G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_018262.4:c.564-2261G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_052985.4:c.893+15G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_052989.3:c.740+15G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_052990.3:c.408-2261G>A - intron variant - [Sequence Ontology: SO:0001627]