chr1:156106789:G>C Detail (hg19) (LMNA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,106,789-156,106,789 |
hg38 | chr1:156,136,998-156,136,998 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001282625.1:c.1458G>C | NP_001269554.1:p.Lys486Asn |
NM_005572.3:c.1458G>C | NP_005563.1:p.Lys486Asn | |
NM_001282624.1:c.1215G>C | NP_001269553.1:p.Lys405Asn |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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no assertion provided | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.362 | Familial Partial Lipodystrophy, Type 2 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_170707.4(LMNA):c.1458G>C (p.Lys486Asn) AND not provided | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs59981161 dbSNP
- Genome
- hg19
- Position
- chr1:156,106,789-156,106,789
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
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