ClinVar

NM_001227.5(CASP7):c.541T>C (p.Phe181Leu)

Gene:

CASP7:caspase 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.3

Genomic location:

• Chr10: 113725526 (on Assembly GRCh38)
• Chr10: 115485285 (on Assembly GRCh37)

Preferred name:

NM_001227.5(CASP7):c.541T>C (p.Phe181Leu)

HGVS:

• NC_000010.11:g.113725526T>C
• NM_001227.5:c.541T>CMANE SELECT
• NM_001267056.2:c.541T>C
• NM_001267057.1:c.796T>C
• NM_001267058.2:c.466T>C
• NM_001320911.2:c.565T>C
• NM_033338.6:c.640T>C
• NM_033339.5:c.541T>C
• NM_033340.4:c.444+97T>C
• NP_001218.1:p.Phe181Leu
• NP_001253985.1:p.Phe181Leu
• NP_001253986.1:p.Phe266Leu
• NP_001253987.1:p.Phe156Leu
• NP_001307840.1:p.Phe189Leu
• NP_203124.1:p.Phe214Leu
• NP_203125.1:p.Phe181Leu
• NC_000010.10:g.115485285T>C

This HGVS expression did not pass validation

Protein change:

F156L

Molecular consequence:

• NM_033340.4:c.444+97T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001227.5:c.541T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267056.2:c.541T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267057.1:c.796T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267058.2:c.466T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320911.2:c.565T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_033338.6:c.640T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_033339.5:c.541T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1