ClinVar

NM_004937.3(CTNS):c.61+2T>C

Gene:

CTNS:cystinosin, lysosomal cystine transporter [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 3640269 (on Assembly GRCh38)
• Chr17: 3543563 (on Assembly GRCh37)

Preferred name:

NM_004937.3(CTNS):c.61+2T>C

HGVS:

• NC_000017.11:g.3640269T>C
• NG_012489.2:g.8802T>C
• NG_052852.1:g.1054A>G
• NM_001031681.3:c.61+2T>C
• NM_001374492.1:c.61+2T>C
• NM_001374493.1:c.-296+2T>C
• NM_001374494.1:c.-381+2953T>C
• NM_001374495.1:c.-217+2T>C
• NM_001374496.1:c.-296+2953T>C
• NM_004937.3:c.61+2T>CMANE SELECT
• NC_000017.10:g.3543563T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs767289120

NCBI 1000 Genomes Browser:

rs767289120

Molecular consequence:

• NM_001374494.1:c.-381+2953T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374496.1:c.-296+2953T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001031681.3:c.61+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001374492.1:c.61+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001374493.1:c.-296+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001374495.1:c.-217+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_004937.3:c.61+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]