ClinVar

NM_015213.4(DENND5A):c.303G>A (p.Pro101=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 9204306 (on Assembly GRCh38)
• Chr11: 9225853 (on Assembly GRCh37)

Preferred name:

NM_015213.4(DENND5A):c.303G>A (p.Pro101=)

HGVS:

• NC_000011.10:g.9204306C>T
• NG_053019.1:g.66030G>A
• NM_001243254.2:c.303G>A
• NM_001348748.1:c.303G>A
• NM_001348749.2:c.231G>A
• NM_001348750.2:c.15G>A
• NM_015213.4:c.303G>AMANE SELECT
• NP_001230183.1:p.Pro101=
• NP_001335677.1:p.Pro101=
• NP_001335678.1:p.Pro77=
• NP_001335679.1:p.Pro5=
• NP_056028.2:p.Pro101=
• NC_000011.9:g.9225853C>T
• NR_145966.2:n.560G>A

This HGVS expression did not pass validation

Molecular consequence:

• NR_145966.2:n.560G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001243254.2:c.303G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001348748.1:c.303G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001348749.2:c.231G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001348750.2:c.15G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015213.4:c.303G>A - synonymous variant - [Sequence Ontology: SO:0001819]