ClinVar

NM_014109.4(ATAD2):c.808G>A (p.Asp270Asn)

Gene:

ATAD2:ATPase family AAA domain containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.13

Genomic location:

• Chr8: 123369944 (on Assembly GRCh38)
• Chr8: 124382184 (on Assembly GRCh37)

Preferred name:

NM_014109.4(ATAD2):c.808G>A (p.Asp270Asn)

HGVS:

• NC_000008.11:g.123369944C>T
• NM_014109.4:c.808G>AMANE SELECT
• NM_032365.1:c.808G>A
• NP_054828.2:p.Asp270Asn
• NP_115741.1:p.Asp270Asn
• NC_000008.10:g.124382184C>T

This HGVS expression did not pass validation

Protein change:

D270N

Molecular consequence:

• NM_014109.4:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032365.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1