ClinVar

NM_004937.3(CTNS):c.970G>A (p.Asp324Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 3659975 (on Assembly GRCh38)
• Chr17: 3563269 (on Assembly GRCh37)

Preferred name:

NM_004937.3(CTNS):c.970G>A (p.Asp324Asn)

HGVS:

• NC_000017.11:g.3659975G>A
• NG_012489.2:g.28508G>A
• NM_001031681.3:c.970G>A
• NM_001374492.1:c.970G>A
• NM_001374493.1:c.529G>A
• NM_001374494.1:c.529G>A
• NM_001374495.1:c.529G>A
• NM_001374496.1:c.529G>A
• NM_004937.3:c.970G>AMANE SELECT
• NP_001026851.2:p.Asp324Asn
• NP_001361421.1:p.Asp324Asn
• NP_001361422.1:p.Asp177Asn
• NP_001361423.1:p.Asp177Asn
• NP_001361424.1:p.Asp177Asn
• NP_001361425.1:p.Asp177Asn
• NP_004928.2:p.Asp324Asn
• NC_000017.10:g.3563269G>A
• NM_004937.2:c.970G>A

This HGVS expression did not pass validation

Protein change:

D177N

Links:

dbSNP: rs140326392

NCBI 1000 Genomes Browser:

rs140326392

Molecular consequence:

• NM_001031681.3:c.970G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374492.1:c.970G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374493.1:c.529G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374494.1:c.529G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374495.1:c.529G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374496.1:c.529G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004937.3:c.970G>A - missense variant - [Sequence Ontology: SO:0001583]