ClinVar

NM_018115.4(SDAD1):c.191C>T (p.Ala64Val)

Genes:

SDAD1:SDA1 domain containing 1 [Gene - HGNC]
SDAD1-AS1:SDAD1 antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q21.1

Genomic location:

• Chr4: 75981937 (on Assembly GRCh38)
• Chr4: 76903090 (on Assembly GRCh37)

Preferred name:

NM_018115.4(SDAD1):c.191C>T (p.Ala64Val)

HGVS:

• NC_000004.12:g.75981937G>A
• NM_001288983.2:c.191C>T
• NM_001288984.2:c.-176C>T
• NM_018115.4:c.191C>TMANE SELECT
• NP_001275912.1:p.Ala64Val
• NP_060585.2:p.Ala64Val
• NC_000004.11:g.76903090G>A
• NM_018115.2:c.191C>T

This HGVS expression did not pass validation

Protein change:

A64V

Molecular consequence:

• NM_001288984.2:c.-176C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001288983.2:c.191C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018115.4:c.191C>T - missense variant - [Sequence Ontology: SO:0001583]