ClinVar

NM_001145206.2(KIAA1671):c.1464C>T (p.Ala488=)

Gene:

KIAA1671:KIAA1671 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.23

Genomic location:

• Chr22: 25029463 (on Assembly GRCh38)
• Chr22: 25425430 (on Assembly GRCh37)

Preferred name:

NM_001145206.2(KIAA1671):c.1464C>T (p.Ala488=)

HGVS:

• NC_000022.11:g.25029463C>T
• NM_001145206.2:c.1464C>TMANE SELECT
• NM_001386930.1:c.1464C>T
• NM_001386932.1:c.1464C>T
• NM_001386933.1:c.1464C>T
• NP_001138678.1:p.Ala488=
• NP_001373859.1:p.Ala488=
• NP_001373861.1:p.Ala488=
• NP_001373862.1:p.Ala488=
• NC_000022.10:g.25425430C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001145206.2:c.1464C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386930.1:c.1464C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386932.1:c.1464C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386933.1:c.1464C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1