ClinVar

NM_138422.4(ADAT3):c.274A>C (p.Lys92Gln)

Genes:

ADAT3:adenosine deaminase tRNA specific 3 [Gene - OMIM - HGNC]
SCAMP4:secretory carrier membrane protein 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 1912321 (on Assembly GRCh38)
• Chr19: 1912320 (on Assembly GRCh37)

Preferred name:

NM_138422.4(ADAT3):c.274A>C (p.Lys92Gln)

HGVS:

• NC_000019.10:g.1912321A>C
• NG_051211.1:g.12108A>C
• NM_001329533.2:c.226A>C
• NM_001329539.2:c.-125-5373A>C
• NM_001329540.2:c.-41-2658A>C
• NM_079834.4:c.-41-2658A>CMANE SELECT
• NM_138422.4:c.274A>CMANE SELECT
• NP_001316462.1:p.Lys76Gln
• NP_612431.2:p.Lys92Gln
• NC_000019.9:g.1912320A>C

This HGVS expression did not pass validation

Protein change:

K76Q

Links:

dbSNP: rs933590538

NCBI 1000 Genomes Browser:

rs933590538

Molecular consequence:

• NM_001329539.2:c.-125-5373A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001329540.2:c.-41-2658A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_079834.4:c.-41-2658A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001329533.2:c.226A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_138422.4:c.274A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1