ClinVar

NM_004937.3(CTNS):c.327C>T (p.Thr109=)

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: 3655099 (on Assembly GRCh38)
• Chr17: 3558393 (on Assembly GRCh37)

Preferred name:

NM_004937.3(CTNS):c.327C>T (p.Thr109=)

HGVS:

• NC_000017.11:g.3655099C>T
• NG_012489.2:g.23632C>T
• NM_001031681.3:c.327C>T
• NM_001374492.1:c.327C>T
• NM_001374493.1:c.-115C>T
• NM_001374494.1:c.-115C>T
• NM_001374495.1:c.-115C>T
• NM_001374496.1:c.-115C>T
• NM_004937.3:c.327C>TMANE SELECT
• NP_001026851.2:p.Thr109=
• NP_001361421.1:p.Thr109=
• NP_004928.2:p.Thr109=
• NC_000017.10:g.3558393C>T
• NM_004937.2:c.327C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs150554216

NCBI 1000 Genomes Browser:

rs150554216

Molecular consequence:

• NM_001374493.1:c.-115C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374494.1:c.-115C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374495.1:c.-115C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374496.1:c.-115C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001031681.3:c.327C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374492.1:c.327C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004937.3:c.327C>T - synonymous variant - [Sequence Ontology: SO:0001819]