NM_000426.4(LAMA2):c.1783C>T (p.Leu595Phe) AND LAMA2-related muscular dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002640086.2
Allele description [Variation Report for NM_000426.4(LAMA2):c.1783C>T (p.Leu595Phe)]
NM_000426.4(LAMA2):c.1783C>T (p.Leu595Phe)
Condition(s)
- Name:
- LAMA2-related muscular dystrophy (LAMA2-RD)
- Synonyms:
- Laminin alpha 2-related dystrophy
- Identifiers:
- MONDO: MONDO:0100228; MedGen: C5679788
-
Mus musculus DnaJ (Hsp40) homolog, subfamily B, member 7, mRNA (cDNA clone IMAGE...
Mus musculus DnaJ (Hsp40) homolog, subfamily B, member 7, mRNA (cDNA clone IMAGE:40050444), partial cdsgi|133778060|gb|BC119478.2|Nucleotide
-
Mus musculus solute carrier family 30 (zinc transporter), member 5, mRNA (cDNA c...
Mus musculus solute carrier family 30 (zinc transporter), member 5, mRNA (cDNA clone IMAGE:3708945), complete cdsgi|20809987|gb|BC029217.1|Nucleotide
-
DC094647 Yamamoto/Hyodo-Miura NIBB/NBRP Xenopus DMZ pCS2p+ cDNA library Xenopus ...
DC094647 Yamamoto/Hyodo-Miura NIBB/NBRP Xenopus DMZ pCS2p+ cDNA library Xenopus laevis cDNA clone rxl324n21 3', mRNA sequencegi|119062564|gnl|dbEST|43333081|dbj 4647.1|Nucleotide
-
JGI_CAAP9984.rev NIH_XGC_tropInt1 Xenopus tropicalis cDNA clone IMAGE:7716362 3'...
JGI_CAAP9984.rev NIH_XGC_tropInt1 Xenopus tropicalis cDNA clone IMAGE:7716362 3', mRNA sequencegi|58790507|gnl|dbEST|27683899|gb|C 85.1|Nucleotide
-
AGENCOURT_10767547 Wellcome CRC pSK egg Xenopus laevis cDNA clone IMAGE:6326134 ...
AGENCOURT_10767547 Wellcome CRC pSK egg Xenopus laevis cDNA clone IMAGE:6326134 5', mRNA sequencegi|27506428|gnl|dbEST|16559758|gb|C 74.1|Nucleotide
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Last Updated: Sep 29, 2024