ClinVar

NM_001082486.2(ACD):c.22G>A (p.Val8Ile)

Gene:

ACD:ACD shelterin complex subunit and telomerase recruitment factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 67660199 (on Assembly GRCh38)
• Chr16: 67694102 (on Assembly GRCh37)

Preferred name:

NM_001082486.2(ACD):c.22G>A (p.Val8Ile)

HGVS:

• NC_000016.10:g.67660199C>T
• NG_042874.1:g.5617G>A
• NM_001082486.2:c.22G>AMANE SELECT
• NM_022914.3:c.22G>A
• NP_001075955.2:p.Val8Ile
• NP_075065.3:p.Val8Ile
• LRG_1237t1:c.22G>A
• LRG_1237:g.5617G>A
• LRG_1237p1:p.Val8Ile
• NC_000016.9:g.67694102C>T
• NM_001082486.1:c.280G>A

This HGVS expression did not pass validation

Protein change:

V8I

Links:

dbSNP: rs149365469

NCBI 1000 Genomes Browser:

rs149365469

Molecular consequence:

• NM_001082486.2:c.22G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022914.3:c.22G>A - missense variant - [Sequence Ontology: SO:0001583]