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NM_000047.3(ARSL):c.733G>C (p.Gly245Arg) AND X-linked chondrodysplasia punctata 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 7, 1995
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000012282.12

Allele description [Variation Report for NM_000047.3(ARSL):c.733G>C (p.Gly245Arg)]

NM_000047.3(ARSL):c.733G>C (p.Gly245Arg)

Gene:
ARSL:arylsulfatase L [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.33
Genomic location:
Preferred name:
NM_000047.3(ARSL):c.733G>C (p.Gly245Arg)
HGVS:
  • NC_000023.11:g.2949425C>G
  • NG_007091.1:g.19846G>C
  • NM_000047.3:c.733G>CMANE SELECT
  • NM_001282628.2:c.808G>C
  • NM_001282631.2:c.571G>C
  • NM_001369079.1:c.760G>C
  • NM_001369080.1:c.808G>C
  • NP_000038.2:p.Gly245Arg
  • NP_001269557.1:p.Gly270Arg
  • NP_001269560.2:p.Gly191Arg
  • NP_001356008.1:p.Gly254Arg
  • NP_001356009.1:p.Gly270Arg
  • NC_000023.10:g.2867466C>G
  • P51690:p.Gly245Arg
Protein change:
G191R; GLY245ARG
Links:
UniProtKB: P51690#VAR_007311; OMIM: 300180.0005; dbSNP: rs122460154
NCBI 1000 Genomes Browser:
rs122460154
Molecular consequence:
  • NM_000047.3:c.733G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282628.2:c.808G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282631.2:c.571G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369079.1:c.760G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369080.1:c.808G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
X-linked chondrodysplasia punctata 1 (CDPX1)
Synonyms:
Chondrodysplasia punctata 1, X-linked recessive; Arylsulfatase E deficiency; Chondrodysplasia punctata, brachytelephalangic; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010555; MedGen: C3669395; OMIM: 302950

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000032516OMIM
no assertion criteria provided
Pathogenic
(Apr 7, 1995) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.

Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A.

Cell. 1995 Apr 7;81(1):15-25.

PubMed [citation]
PMID:
7720070

Details of each submission

From OMIM, SCV000032516.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a male patient with CDPX1 (CDPX1; 302950), Franco et al. (1995) used SSCP analysis followed by sequencing and identified a G-to-C transversion in exon 5 of the ARSE gene, leading to a gly245-to-arg amino acid substitution.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022