ClinVar

NM_004937.3(CTNS):c.61G>T (p.Glu21Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 3640267 (on Assembly GRCh38)
• Chr17: 3543561 (on Assembly GRCh37)

Preferred name:

NM_004937.3(CTNS):c.61G>T (p.Glu21Ter)

HGVS:

• NC_000017.11:g.3640267G>T
• NG_012489.2:g.8800G>T
• NG_052852.1:g.1056C>A
• NM_001031681.3:c.61G>T
• NM_001374492.1:c.61G>T
• NM_001374493.1:c.-296G>T
• NM_001374494.1:c.-381+2951G>T
• NM_001374495.1:c.-217G>T
• NM_001374496.1:c.-296+2951G>T
• NM_004937.3:c.61G>TMANE SELECT
• NP_001026851.2:p.Glu21Ter
• NP_001361421.1:p.Glu21Ter
• NP_004928.2:p.Glu21Ter
• NC_000017.10:g.3543561G>T

This HGVS expression did not pass validation

Protein change:

E21*

Links:

dbSNP: rs2150889009

NCBI 1000 Genomes Browser:

rs2150889009

Molecular consequence:

• NM_001374493.1:c.-296G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374495.1:c.-217G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374494.1:c.-381+2951G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374496.1:c.-296+2951G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001031681.3:c.61G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001374492.1:c.61G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_004937.3:c.61G>T - nonsense - [Sequence Ontology: SO:0001587]