ClinVar

NM_198559.2(CATIP):c.291C>T (p.Asp97=)

Genes:

CATIP-AS2:CATIP antisense RNA 2 [Gene - HGNC]
CATIP:ciliogenesis associated TTC17 interacting protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 218357706 (on Assembly GRCh38)
• Chr2: 219222429 (on Assembly GRCh37)

Preferred name:

NM_198559.2(CATIP):c.291C>T (p.Asp97=)

HGVS:

• NC_000002.12:g.218357706C>T
• NM_001320865.2:c.324C>T
• NM_198559.2:c.291C>TMANE SELECT
• NP_001307794.1:p.Asp108=
• NP_940961.1:p.Asp97=
• NC_000002.11:g.219222429C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001320865.2:c.324C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198559.2:c.291C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1