ClinVar

NM_001130698.2(TRPC3):c.2680G>A (p.Asp894Asn)

Gene:

TRPC3:transient receptor potential cation channel subfamily C member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q27

Genomic location:

• Chr4: 121879822 (on Assembly GRCh38)
• Chr4: 122800977 (on Assembly GRCh37)

Preferred name:

NM_001130698.2(TRPC3):c.2680G>A (p.Asp894Asn)

HGVS:

• NC_000004.12:g.121879822C>T
• NG_030368.1:g.76933G>A
• NG_030368.2:g.77238G>A
• NM_001130698.2:c.2680G>AMANE SELECT
• NM_001366479.2:c.2596G>A
• NM_003305.2:c.2461G>A
• NP_001124170.1:p.Asp894Asn
• NP_001353408.1:p.Asp866Asn
• NP_003296.1:p.Asp821Asn
• NC_000004.11:g.122800977C>T
• NM_001130698.1:c.2680G>A

This HGVS expression did not pass validation

Protein change:

D821N

Molecular consequence:

• NM_001130698.2:c.2680G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366479.2:c.2596G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003305.2:c.2461G>A - missense variant - [Sequence Ontology: SO:0001583]