ClinVar

NM_014336.5(AIPL1):c.234C>T (p.Ser78=)

Gene:

AIPL1:AIP like 1 HSP90 co-chaperone [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 6433961 (on Assembly GRCh38)
• Chr17: 6337281 (on Assembly GRCh37)

Preferred name:

NM_014336.5(AIPL1):c.234C>T (p.Ser78=)

HGVS:

• NC_000017.11:g.6433961G>A
• NG_008474.1:g.6239C>T
• NM_001033054.3:c.234C>T
• NM_001033055.3:c.96+1048C>T
• NM_001285399.3:c.198C>T
• NM_001285400.3:c.168C>T
• NM_001285401.3:c.234C>T
• NM_001285402.2:c.117C>T
• NM_001285403.4:c.234C>T
• NM_014336.5:c.234C>TMANE SELECT
• NP_001028226.1:p.Ser78=
• NP_001272328.1:p.Ser66=
• NP_001272329.1:p.Ser56=
• NP_001272330.1:p.Ser78=
• NP_001272331.1:p.Ser39=
• NP_001272332.1:p.Ser78=
• NP_055151.3:p.Ser78=
• NC_000017.10:g.6337281G>A
• NM_014336.3:c.234C>T
• NM_014336.4:c.234C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs62635774

NCBI 1000 Genomes Browser:

rs62635774

Molecular consequence:

• NM_001033055.3:c.96+1048C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001033054.3:c.234C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001285399.3:c.198C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001285400.3:c.168C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001285401.3:c.234C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001285402.2:c.117C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001285403.4:c.234C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014336.5:c.234C>T - synonymous variant - [Sequence Ontology: SO:0001819]