Version: 8.0.0
Date: Tue Jan 28 2025
rs138579209
Variant overlaps DACH2
Homo sapiens
SummaryVariant Molecular Consequences
Allele/Variant

rs138579209

Species
Homo sapiens
Symbol
rs138579209
Category
Variant
Variant type
SNP
Overlaps
DACH2
Location
X:86814830
Nucleotide Change
A>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000023.11:g.86814830A>C
HGVS.c name
  • ENSEMBL:ENST00000373125.9:c.1680A>C
  • ENSEMBL:ENST00000373131.5:c.1641A>C
HGVS.p name
  • ENSP00000362217:p.Leu560Phe
  • ENSP00000362223:p.Leu547Phe
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
Not Available
Genome location
Assembly version
Not Available
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Variant Molecular Consequences

Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
ENSEMBL:ENST00000373125.9
protein_codingDACH2Exon 10/12
  • missense variant
1678ttAN/A
[560]L/FN/A
=>
ttC
L/F
ENSEMBL:ENST00000373131.5
protein_codingDACH2Exon 9/12
  • missense variant
1639ttAN/A
[547]L/FN/A
=>
ttC
L/F
ENSEMBL:ENST00000461604.6
transcriptDACH2Exon 11/13
  • non coding transcript exon variant
ENSEMBL:ENST00000484479.1
protein_codingDACH2Exon 5/7
  • missense variant
673ttAN/A
[225]L/FN/A
=>
ttC
L/F
ENSEMBL:ENST00000506327.6
transcriptDACH2Exon 10/12
  • non coding transcript exon variant
ENSEMBL:ENST00000508860.5
protein_codingDACH2Exon 10/12
  • missense variant
1177ttAN/A
[393]L/FN/A
=>
ttC
L/F
ENSEMBL:ENST00000510272.5
protein_codingDACH2Exon 9/11
  • missense variant
1021ttAN/A
[341]L/FN/A
=>
ttC
L/F
ENSEMBL:ENST00000613770.4
protein_codingDACH2Exon 9/11
  • missense variant
1162ttAN/A
[388]L/FN/A
=>
ttC
L/F
RefSeq:NM_001139515.1
protein_codingDACH2Exon 10/12
  • missense variant
1177ttAN/A
[393]L/FN/A
=>
ttC
L/F
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