NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser) AND Smith-Lemli-Opitz syndrome
- Germline classification:
- Uncertain significance (4 submissions)
- Last evaluated:
- Jun 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000763769.17
Allele description [Variation Report for NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser)]
NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser)
Condition(s)
- Name:
- Smith-Lemli-Opitz syndrome (SLOS)
- Synonyms:
- LETHAL ACRODYSGENITAL SYNDROME; POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG; RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010035; MedGen: C0175694; Orphanet: 818; OMIM: 270400
-
Homo sapiens Fas apoptotic inhibitory molecule (FAIM), transcript variant 1, mRN...
Homo sapiens Fas apoptotic inhibitory molecule (FAIM), transcript variant 1, mRNAgi|1677500380|ref|NM_001033030.2|Nucleotide
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zj11h07.s1 Soares_fetal_liver_spleen_1NFLS_S1 Homo sapiens cDNA clone IMAGE:4500...
zj11h07.s1 Soares_fetal_liver_spleen_1NFLS_S1 Homo sapiens cDNA clone IMAGE:450013 3', mRNA sequencegi|2713414|gnl|dbEST|1410210|gb|AA7 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024