ClinVar

NM_000022.4(ADA):c.606+10G>A

Gene:

ADA:adenosine deaminase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

• Chr20: 44624192 (on Assembly GRCh38)
• Chr20: 43252833 (on Assembly GRCh37)

Preferred name:

NM_000022.4(ADA):c.606+10G>A

HGVS:

• NC_000020.11:g.44624192C>T
• NG_007385.1:g.32544G>A
• NM_000022.4:c.606+10G>AMANE SELECT
• NM_001322050.2:c.201+10G>A
• NM_001322051.2:c.606+10G>A
• LRG_16t1:c.606+10G>A
• LRG_16:g.32544G>A
• NC_000020.10:g.43252833C>T
• NM_000022.2:c.606+10G>A
• NM_000022.3:c.606+10G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs201045221

NCBI 1000 Genomes Browser:

rs201045221

Molecular consequence:

• NM_000022.4:c.606+10G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001322050.2:c.201+10G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001322051.2:c.606+10G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1