NM_001111125.3(IQSEC2):c.2984G>C (p.Arg995Pro) AND Intellectual disability, X-linked 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002870682.3
Allele description [Variation Report for NM_001111125.3(IQSEC2):c.2984G>C (p.Arg995Pro)]
NM_001111125.3(IQSEC2):c.2984G>C (p.Arg995Pro)
Condition(s)
- Name:
- Intellectual disability, X-linked 1 (XLID1)
- Synonyms:
- Mental retardation, X-linked, nonspecific; Atkin Flaitz Patil Smith syndrome; MENTAL RETARDATION, X-LINKED 18; See all synonyms [MedGen]
- Identifiers:
- Gene: 170530; MONDO: MONDO:0010656; MedGen: C2931498; Orphanet: 777; OMIM: 309530
-
uncharacterized protein MELLADRAFT_70457 [Melampsora larici-populina 98AG31]
uncharacterized protein MELLADRAFT_70457 [Melampsora larici-populina 98AG31]gi|599353154|ref|XP_007403639.1|Protein
-
LOC110920716 [Helianthus annuus]
LOC110920716 [Helianthus annuus]Gene ID:110920716Gene
-
LOC115161879 [Salmo trutta]
LOC115161879 [Salmo trutta]Gene ID:115161879Gene
-
LOC104780140 [Camelina sativa]
LOC104780140 [Camelina sativa]Gene ID:104780140Gene
-
RAB11FIP5 RAB11 family interacting protein 5 [Bos taurus]
RAB11FIP5 RAB11 family interacting protein 5 [Bos taurus]Gene ID:535992Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024