NM_014946.4(SPAST):c.1181C>A (p.Ala394Glu) AND Hereditary spastic paraplegia 4
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001391506.1
Allele description [Variation Report for NM_014946.4(SPAST):c.1181C>A (p.Ala394Glu)]
NM_014946.4(SPAST):c.1181C>A (p.Ala394Glu)
Condition(s)
-
LOW QUALITY PROTEIN: protein FIZZY-RELATED 3-like [Cucurbita moschata]
LOW QUALITY PROTEIN: protein FIZZY-RELATED 3-like [Cucurbita moschata]gi|1279771485|ref|XP_022938375.1|Protein
-
CBXT713.b1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:8859758 5', mRN...
CBXT713.b1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:8859758 5', mRNA sequencegi|133813340|gnl|dbEST|45242947|gb| 987.1|Nucleotide
-
db53c05.x1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA ...
db53c05.x1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA clone IMAGE:3302216 3', mRNA sequencegi|10848849|gnl|dbEST|6429465|gb|BF 0.1|Nucleotide
-
dc45e11.x1 NICHD_XGC_Emb3 Xenopus laevis cDNA clone IMAGE:3400052 3' similar to ...
dc45e11.x1 NICHD_XGC_Emb3 Xenopus laevis cDNA clone IMAGE:3400052 3' similar to TR:Q92804 Q92804 TBP-ASSOCIATED FACTOR HTAFII68, mRNA sequencegi|12475953|gnl|dbEST|7597300|gb|BG 4.1|Nucleotide
-
JGI_CAAP9505.fwd NIH_XGC_tropInt1 Xenopus tropicalis cDNA clone IMAGE:7715620 5'...
JGI_CAAP9505.fwd NIH_XGC_tropInt1 Xenopus tropicalis cDNA clone IMAGE:7715620 5', mRNA sequencegi|58789648|gnl|dbEST|27683040|gb|C 26.1|Nucleotide
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Last Updated: Dec 24, 2023