ClinVar

NM_024726.5(IQCA1):c.979G>C (p.Ala327Pro)

Genes:

IQCA1:IQ motif containing with AAA domain 1 [Gene - HGNC]
LOC126806570:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:237348547-237349746 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 236441072 (on Assembly GRCh38)
• Chr2: 237349715 (on Assembly GRCh37)

Preferred name:

NM_024726.5(IQCA1):c.979G>C (p.Ala327Pro)

HGVS:

• NC_000002.12:g.236441072C>G
• NG_082890.1:g.1269C>G
• NM_001270584.2:c.979G>C
• NM_001270585.2:c.1000G>C
• NM_024726.5:c.979G>CMANE SELECT
• NP_001257513.1:p.Ala327Pro
• NP_001257514.1:p.Ala334Pro
• NP_079002.3:p.Ala327Pro
• NC_000002.11:g.237349715C>G
• NR_073043.2:n.1188G>C

This HGVS expression did not pass validation

Protein change:

A327P

Molecular consequence:

• NM_001270584.2:c.979G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270585.2:c.1000G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_024726.5:c.979G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_073043.2:n.1188G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1