ClinVar

NM_004937.3(CTNS):c.123C>T (p.Asn41=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 3647505 (on Assembly GRCh38)
• Chr17: 3550799 (on Assembly GRCh37)

Preferred name:

NM_004937.3(CTNS):c.123C>T (p.Asn41=)

HGVS:

• NC_000017.11:g.3647505C>T
• NG_012489.2:g.16038C>T
• NM_001031681.3:c.123C>T
• NM_001374492.1:c.123C>T
• NM_001374493.1:c.-234C>T
• NM_001374494.1:c.-319C>T
• NM_001374495.1:c.-217+7238C>T
• NM_001374496.1:c.-234C>T
• NM_004937.3:c.123C>TMANE SELECT
• NP_001026851.2:p.Asn41=
• NP_001361421.1:p.Asn41=
• NP_004928.2:p.Asn41=
• NC_000017.10:g.3550799C>T
• NG_012489.1:g.16038C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs148084080

NCBI 1000 Genomes Browser:

rs148084080

Molecular consequence:

• NM_001374493.1:c.-234C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374494.1:c.-319C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374496.1:c.-234C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374495.1:c.-217+7238C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001031681.3:c.123C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374492.1:c.123C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004937.3:c.123C>T - synonymous variant - [Sequence Ontology: SO:0001819]