ClinVar

NM_024726.5(IQCA1):c.1649T>C (p.Leu550Ser)

Gene:

IQCA1:IQ motif containing with AAA domain 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.2

Genomic location:

• Chr2: 236368214 (on Assembly GRCh38)
• Chr2: 237276857 (on Assembly GRCh37)

Preferred name:

NM_024726.5(IQCA1):c.1649T>C (p.Leu550Ser)

HGVS:

• NC_000002.12:g.236368214A>G
• NM_001270584.2:c.1526T>C
• NM_001270585.2:c.1673T>C
• NM_024726.5:c.1649T>CMANE SELECT
• NP_001257513.1:p.Leu509Ser
• NP_001257514.1:p.Leu558Ser
• NP_079002.3:p.Leu550Ser
• NC_000002.11:g.237276857A>G
• NM_024726.3:c.1649T>C
• NR_073043.2:n.1861T>C

This HGVS expression did not pass validation

Protein change:

L509S

Molecular consequence:

• NM_001270584.2:c.1526T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270585.2:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_024726.5:c.1649T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_073043.2:n.1861T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]