ClinVar

NM_001193313.2(SUGCT):c.780T>C (p.Arg260=)

Gene:

SUGCT:succinyl-CoA:glutarate-CoA transferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p14.1

Genomic location:

• Chr7: 40316819 (on Assembly GRCh38)
• Chr7: 40356418 (on Assembly GRCh37)

Preferred name:

NM_001193313.2(SUGCT):c.780T>C (p.Arg260=)

HGVS:

• NC_000007.14:g.40316819T>C
• NG_023422.2:g.186844T>C
• NM_001193311.2:c.780T>C
• NM_001193312.2:c.636T>C
• NM_001193313.2:c.780T>CMANE SELECT
• NM_024728.3:c.669T>C
• NP_001180240.2:p.Arg260=
• NP_001180241.2:p.Arg212=
• NP_001180242.2:p.Arg260=
• NP_079004.2:p.Arg223=
• NC_000007.13:g.40356418T>C
• NC_000007.13:g.40356418T>C
• NG_023422.1:g.186844T>C
• NM_024728.2:c.690T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs185036245

NCBI 1000 Genomes Browser:

rs185036245

Molecular consequence:

• NM_001193311.2:c.780T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001193312.2:c.636T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001193313.2:c.780T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024728.3:c.669T>C - synonymous variant - [Sequence Ontology: SO:0001819]