ClinVar

NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu)

Gene:

CDAN1:codanin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.2

Genomic location:

• Chr15: 42736323 (on Assembly GRCh38)
• Chr15: 43028521 (on Assembly GRCh37)

Preferred name:

NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu)

HGVS:

• NC_000015.10:g.42736323G>A
• NG_012491.1:g.5897C>T
• NM_138477.4:c.548C>TMANE SELECT
• NP_612486.2:p.Ser183Leu
• LRG_1164t1:c.548C>T
• LRG_1164:g.5897C>T
• LRG_1164p1:p.Ser183Leu
• NC_000015.9:g.43028521G>A

This HGVS expression did not pass validation

Protein change:

S183L

Molecular consequence:

• NM_138477.4:c.548C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1