NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer) AND Ehlers-Danlos syndrome, musculocontractural type 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 1, 2010
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001290022.1
Allele description [Variation Report for NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer)]
NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer)
Condition(s)
-
Homo sapiens erythroblast membrane associated protein (Scianna blood group) (ERM...
Homo sapiens erythroblast membrane associated protein (Scianna blood group) (ERMAP), transcript variant 2, mRNAgi|1889463332|ref|NM_018538.4|Nucleotide
-
LOC110715868 [Chenopodium quinoa]
LOC110715868 [Chenopodium quinoa]Gene ID:110715868Gene
-
Homo sapiens chromosome 15, clone RP11-352G18, complete sequence
Homo sapiens chromosome 15, clone RP11-352G18, complete sequencegi|23196524|gnl|WIBR|L9770|gb|AC055 |Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024