NM_000487.6(ARSA):c.1323del (p.Asn440_Tyr441insTer) AND Metachromatic leukodystrophy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 28, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000669753.1
Allele description [Variation Report for NM_000487.6(ARSA):c.1323del (p.Asn440_Tyr441insTer)]
NM_000487.6(ARSA):c.1323del (p.Asn440_Tyr441insTer)
Condition(s)
- Name:
- Metachromatic leukodystrophy (MLD)
- Synonyms:
- Metachromatic leukoencephalopathy; Sulfatide lipidosis; Cerebral sclerosis diffuse metachromatic form; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018868; MedGen: C0023522; Orphanet: 512; OMIM: 250100
-
cyclo-L-leucyl-L-leucyl dipeptide oxidase, pulcheriminic synthase [Bacillus subt...
cyclo-L-leucyl-L-leucyl dipeptide oxidase, pulcheriminic synthase [Bacillus subtilis subsp. subtilis str. 168]gi|16080559|ref|NP_391386.1|Protein
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Homo sapiens THAP7 antisense RNA 1 (THAP7-AS1), transcript variant 2, long non-c...
Homo sapiens THAP7 antisense RNA 1 (THAP7-AS1), transcript variant 2, long non-coding RNAgi|224451065|ref|NR_027052.1|Nucleotide
-
mCG18039, isoform CRA_a [Mus musculus]
mCG18039, isoform CRA_a [Mus musculus]gi|148695689|gb|EDL27636.1||gnl|WGS |mCP103855Protein
-
Combined oxidative phosphorylation deficiency 44
Combined oxidative phosphorylation deficiency 44MedGen
-
C5394293[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022