ClinVar

NM_015213.4(DENND5A):c.3629G>A (p.Arg1210Gln)

Gene:

DENND5A:DENN domain containing 5A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 9141991 (on Assembly GRCh38)
• Chr11: 9163538 (on Assembly GRCh37)

Preferred name:

NM_015213.4(DENND5A):c.3629G>A (p.Arg1210Gln)

HGVS:

• NC_000011.10:g.9141991C>T
• NG_053019.1:g.128345G>A
• NM_001243254.2:c.3629G>A
• NM_001348749.2:c.3557G>A
• NM_001348750.2:c.3341G>A
• NM_015213.4:c.3629G>AMANE SELECT
• NP_001230183.1:p.Arg1210Gln
• NP_001335678.1:p.Arg1186Gln
• NP_001335679.1:p.Arg1114Gln
• NP_056028.2:p.Arg1210Gln
• NC_000011.9:g.9163538C>T
• NR_145966.2:n.3803G>A

This HGVS expression did not pass validation

Protein change:

R1114Q

Links:

dbSNP: rs1057519564

NCBI 1000 Genomes Browser:

rs1057519564

Molecular consequence:

• NM_001243254.2:c.3629G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348749.2:c.3557G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348750.2:c.3341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015213.4:c.3629G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_145966.2:n.3803G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]