ClinVar

NM_006371.5(CRTAP):c.20G>C (p.Gly7Ala)

Genes:

LOC129936436:ATAC-STARR-seq lymphoblastoid silent region 14183 [Gene]
CRTAP:cartilage associated protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.3

Genomic location:

• Chr3: 33114097 (on Assembly GRCh38)
• Chr3: 33155589 (on Assembly GRCh37)

Preferred name:

NM_006371.5(CRTAP):c.20G>C (p.Gly7Ala)

HGVS:

• NC_000003.12:g.33114097G>C
• NG_008122.1:g.5140G>C
• NM_001393363.1:c.20G>C
• NM_001393364.1:c.20G>C
• NM_001393365.1:c.20G>C
• NM_006371.5:c.20G>CMANE SELECT
• NP_001380292.1:p.Gly7Ala
• NP_001380293.1:p.Gly7Ala
• NP_001380294.1:p.Gly7Ala
• NP_006362.1:p.Gly7Ala
• LRG_4:g.5140G>C
• NC_000003.11:g.33155589G>C

This HGVS expression did not pass validation

Protein change:

G7A

Links:

dbSNP: rs886044235

NCBI 1000 Genomes Browser:

rs886044235

Molecular consequence:

• NM_001393363.1:c.20G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393364.1:c.20G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393365.1:c.20G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_006371.5:c.20G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1