chr2:215645462:T>G Detail (hg19) (BARD1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:215,645,462-215,645,462 |
hg38 | chr2:214,780,738-214,780,738 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000465.3:c.1136A>C | NP_000456.2:p.Lys379Thr |
NR_104212.1:c.1136A>C | ||
NR_104216.1:c.1136A>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-09-25 | criteria provided, multiple submitters, no conflicts | Familial cancer of breast |
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Detail |
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2023-04-17 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2023-09-18 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-01-03 | criteria provided, single submitter | BARD1-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000465.4(BARD1):c.1136A>C (p.Lys379Thr) AND Familial cancer of breast | ClinVar | Detail |
NM_000465.4(BARD1):c.1136A>C (p.Lys379Thr) AND not provided | ClinVar | Detail |
NM_000465.4(BARD1):c.1136A>C (p.Lys379Thr) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000465.4(BARD1):c.1136A>C (p.Lys379Thr) AND BARD1-related disorder | ClinVar | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs750827325 dbSNP
- Genome
- hg19
- Position
- chr2:215,645,462-215,645,462
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser