ClinVar

NM_004937.3(CTNS):c.462-7C>A

Genes:

CTNS-AS1:CTNS antisense RNA 1 [Gene - HGNC]
CTNS:cystinosin, lysosomal cystine transporter [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 3656480 (on Assembly GRCh38)
• Chr17: 3559774 (on Assembly GRCh37)

Preferred name:

NM_004937.3(CTNS):c.462-7C>A

HGVS:

• NC_000017.11:g.3656480C>A
• NG_012489.2:g.25013C>A
• NM_001031681.3:c.462-7C>A
• NM_001374492.1:c.462-7C>A
• NM_001374493.1:c.21-7C>A
• NM_001374494.1:c.21-7C>A
• NM_001374495.1:c.21-7C>A
• NM_001374496.1:c.21-7C>A
• NM_004937.3:c.462-7C>AMANE SELECT
• NC_000017.10:g.3559774C>A
• NM_001031681.2:c.462-7C>A
• NM_004937.2:c.462-7C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs189632527

NCBI 1000 Genomes Browser:

rs189632527

Molecular consequence:

• NM_001031681.3:c.462-7C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374492.1:c.462-7C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374493.1:c.21-7C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374494.1:c.21-7C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374495.1:c.21-7C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374496.1:c.21-7C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_004937.3:c.462-7C>A - intron variant - [Sequence Ontology: SO:0001627]