NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs) AND Phelan-McDermid syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jan 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001249687.10
Allele description [Variation Report for NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)]
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)
Condition(s)
- Name:
- Phelan-McDermid syndrome
- Synonyms:
- TELOMERIC 22q13 MONOSOMY SYNDROME; 22q13.3 deletion syndrome; Chromosome 22q13.3 deletion syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011652; MedGen: C1853490; Orphanet: 48652; OMIM: 606232
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Homo sapiens solute carrier family 2 member 2 (SLC2A2), transcript variant 3, mR...
Homo sapiens solute carrier family 2 member 2 (SLC2A2), transcript variant 3, mRNAgi|1676317765|ref|NM_001278659.2|Nucleotide
-
solute carrier family 2, facilitated glucose transporter member 2 isoform X1 [Ho...
solute carrier family 2, facilitated glucose transporter member 2 isoform X1 [Homo sapiens]gi|2462592065|ref|XP_054203585.1|Protein
-
2,4-D-degrading bacterium 021 16S ribosomal RNA gene, partial sequence
2,4-D-degrading bacterium 021 16S ribosomal RNA gene, partial sequencegi|10039583|gb|AF176849.1|Nucleotide
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Last Updated: Oct 20, 2024