ClinVar

NM_052989.3(IFT122):c.3129C>T (p.Arg1043=)

Gene:

IFT122:intraflagellar transport 122 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

• Chr3: 129514530 (on Assembly GRCh38)
• Chr3: 129233373 (on Assembly GRCh37)

Preferred name:

NM_052989.3(IFT122):c.3129C>T (p.Arg1043=)

HGVS:

• NC_000003.12:g.129514530C>T
• NG_023392.1:g.79406C>T
• NM_001280541.2:c.3108C>T
• NM_001280545.2:c.2679C>T
• NM_001280546.2:c.2502C>T
• NM_018262.4:c.2952C>T
• NM_052985.4:c.3282C>T
• NM_052989.3:c.3129C>TMANE SELECT
• NM_052990.3:c.2799C>T
• NP_001267470.1:p.Arg1036=
• NP_001267474.1:p.Arg893=
• NP_001267475.1:p.Arg834=
• NP_060732.2:p.Arg984=
• NP_443711.2:p.Arg1094=
• NP_443715.1:p.Arg1043=
• NP_443716.1:p.Arg933=
• NC_000003.11:g.129233373C>T
• NM_052985.2:c.3282C>T
• NM_052985.3:c.3282C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs76881473

NCBI 1000 Genomes Browser:

rs76881473

Molecular consequence:

• NM_001280541.2:c.3108C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001280545.2:c.2679C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001280546.2:c.2502C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_018262.4:c.2952C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_052985.4:c.3282C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_052989.3:c.3129C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_052990.3:c.2799C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2