NM_194293.4(XIRP1):c.4495G>A (p.Glu1499Lys) AND Classical primary microcephaly
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000162178.3
Allele description [Variation Report for NM_194293.4(XIRP1):c.4495G>A (p.Glu1499Lys)]
NM_194293.4(XIRP1):c.4495G>A (p.Glu1499Lys)
Condition(s)
- Name:
- Classical primary microcephaly
- Identifiers:
- MedGen: CN228314
-
hypothetical protein SEA_MILDRED21_12 [Streptomyces phage Mildred21]
hypothetical protein SEA_MILDRED21_12 [Streptomyces phage Mildred21]gi|1227558889|gb|ASR75420.1|Protein
-
Streptococcus phage D4276, complete genome
Streptococcus phage D4276, complete genomegi|1209830527|gb|MF161328.1|Nucleotide
-
foxe3.S forkhead box E3 S homeolog [Xenopus laevis]
foxe3.S forkhead box E3 S homeolog [Xenopus laevis]Gene ID:108715587Gene
-
SUCLA2 [Callithrix jacchus]
SUCLA2 [Callithrix jacchus]Gene ID:100400096Gene
-
DOT1L [Coturnix japonica]
DOT1L [Coturnix japonica]Gene ID:107325391Gene
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024